- Nov 2024
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anthologydev.lib.virginia.edu anthologydev.lib.virginia.edu
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Nay, then 'tis with Belvile, for what other Lover have I that dares fight for me, except Antonio? and he is too much in favour with my Brother—if it be he, for whom shall I direct my Prayers to Heav'n?
As the two man prepare to fight. Florinda is in a moral crisis, unsure whether to pray for her brother or her lover. This is another display of violence by man affecting the ladies.
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www.linkedin.com www.linkedin.com
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Arle LommelArle Lommel • Following • Following Senior Analyst at CSA ResearchSenior Analyst at CSA Research 3d • Edited • 3 days ago One of the most interesting aspects of writing about AI and LLMs right now is that if I say anything remotely positive, some people will accuse me of being a shill for Big AI. If I say anything remotely negative, others will accuse me of being insufficiently aware of the progress AI has made.So I will put out a few personal statements about AI that might clarify where I am on this:1. AI is not intelligent, at least not in the human sense of the word. It is a sophisticated tool for drawing inference from binary data and thus operates *below* a symbolic level.2. AI, at least in the guise of LLMs, is not going to achieve artificial general intelligence (AGI) now or in the future.3. AI is getting much better at *approximating* human behavior on a wide variety of tasks. It can be extremely useful without being intelligent, in the same way that an encyclopedia can be very useful without being intelligent.4. For some tasks – such as translating between two languages – LLMs sometimes perform better than some humans perform. They do not outperform the best humans. This poses a significant challenge for human workers that we (collectively) have yet to address: Lower-skilled workers and trainees in particular begin to look replaceable, but we aren’t yet grappling with what happens when we replace them so they never become the experts we need for the high end. I think the decimation of the pipeline for some sectors is a HUGE unaddressed problem.5. “Human parity” is a rather pointless metric for evaluating AI. It far exceeds human parity in some areas – such as throughput, speed, cost, and availability – while it falls far short in other areas. A much more interesting question is “where do humans and machines have comparative advantage and how can we combine the two in ways that elevate the human?”6. Human-in-the-loop (HitL) is a terrible model. Having humans – usually underpaid and overworked – acting in a janitorial role to clean up AI messes is a bad use of their skill and knowledge. That’s why we prefer augmentation models, what we call “human at the core,” where humans maintain control. To see why one is better, imagine if you applied an HitL model to airline piloting, and the human only stepped in when the plane was in trouble (or even after it crashed). Instead, with airline piloting, we have the pilot in charge and assisted by automation to remain safe.7. AI is going to get better than it is now, but improvements in the core technology are slowing down and will increasingly be incremental. However, experience with prompting and integrating data will continue to drive improvements based on humans’ ability to “trick” the systems into doing the right things.8. Much of the value from LLMs for the language sector will come from “translation adjacent” tasks – summarization, correcting formality, adjusting reading levels, checking terminology, discovering information, etc. – tasks that are typically not paid well.
Arle Lommel Senior Analyst at CSA ResearchSenior Analyst at CSA Research
One of the most interesting aspects of writing about AI and LLMs right now is that if I say anything remotely positive, some people will accuse me of being a shill for Big AI. If I say anything remotely negative, others will accuse me of being insufficiently aware of the progress AI has made.
So I will put out a few personal statements about AI that might clarify where I am on this:
-
AI is not intelligent, at least not in the human sense of the word. It is a sophisticated tool for drawing inference from binary data and thus operates below a symbolic level.
-
AI, at least in the guise of LLMs, is not going to achieve artificial general intelligence (AGI) now or in the future.
-
AI is getting much better at approximating human behavior on a wide variety of tasks. It can be extremely useful without being intelligent, in the same way that an encyclopedia can be very useful without being intelligent.
-
For some tasks – such as translating between two languages – LLMs sometimes perform better than some humans perform. They do not outperform the best humans. This poses a significant challenge for human workers that we (collectively) have yet to address: Lower-skilled workers and trainees in particular begin to look replaceable, but we aren’t yet grappling with what happens when we replace them so they never become the experts we need for the high end. I think the decimation of the pipeline for some sectors is a HUGE unaddressed problem.
-
“Human parity” is a rather pointless metric for evaluating AI. It far exceeds human parity in some areas – such as throughput, speed, cost, and availability – while it falls far short in other areas. A much more interesting question is “where do humans and machines have comparative advantage and how can we combine the two in ways that elevate the human?”
-
Human-in-the-loop (HitL) is a terrible model. Having humans – usually underpaid and overworked – acting in a janitorial role to clean up AI messes is a bad use of their skill and knowledge. That’s why we prefer augmentation models, what we call “human at the core,” where humans maintain control. To see why one is better, imagine if you applied an HitL model to airline piloting, and the human only stepped in when the plane was in trouble (or even after it crashed). Instead, with airline piloting, we have the pilot in charge and assisted by automation to remain safe.
-
AI is going to get better than it is now, but improvements in the core technology are slowing down and will increasingly be incremental. However, experience with prompting and integrating data will continue to drive improvements based on humans’ ability to “trick” the systems into doing the right things.
-
Much of the value from LLMs for the language sector will come from “translation adjacent” tasks – summarization, correcting formality, adjusting reading levels, checking terminology, discovering information, etc. – tasks that are typically not paid well.
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- Oct 2024
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www.youtube.com www.youtube.com
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44:17 Private Balance + Government Balance + Foreign Balance = 0 (I-S)+(G-T)+(X-M)=0
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- Sep 2024
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inst-fs-iad-prod.inscloudgate.net inst-fs-iad-prod.inscloudgate.netUntitled3
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“983dpjnom ,pooyuRWIOMJoyooeds1y8y,ouyeuospassaiddnsaq01sem yooads1wyL “yoaadsuMOAur333919pjnomLyempAraqissodjessorddns0)pepusiurasoaseqBuny]eI,JOJPoeataoos]swuaurysrund ayy ‘yoseds poepsemospezrumsa,ou‘spdSuryyedJoyBuTeo,,OUSEM aray, ‘Yoword0}payedaqAepouwiosiyStu [1mBuLAsyaqyeods0]ourpoSeinoouesavyISAAauy ‘hog&u9eq|peH “PHYPIsarpApetnonedasourpue—pyryo ay—oursoua|is0}popusiuyaJo“AAOUL“ssa[pue pawisas yoaadsjo sioeasapJoysjuawysrund oy‘Kes01SS2TP2ON
In the black southern community, daughters were punished more severely than their brothers. This is because of the already existing gender expectations placed on black women. The girls were always expected to remain quiet, however, it is sometimes possible for boys to interject as they have the possibility to preach in a church.
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‘spudsyUSOpur‘ssoisis‘JoyousJoyYIMpax]elJoyoINOsvpeieUPseySuryoiemJaq“UIaUIaIURD|‘UdWOMypRIqSuoUTeInqaInsyAOYINEsfeUspuJotoUsJOPItppursopowussanag ouaoxydyoo!—uonru80e1puryooedsjoSur-reysouj—onSopeig‘yooeds juroyrusissepespapmouyorJouInqs{qIPAe‘sisnurpunos83yoeqJOPUTTBBWIODaqPINod“InopeuTy9qplnoo—suissry‘sqeamSuTYeUT‘sIopIOBUTAIS—UUIOMYORIJOSPOTOA9t‘poroquisutasaq01319MSPIOMasoT[A‘01pauaist]aq01semOM‘prayoqO1SAL yooodsasoymJoypeardayeuryoRTqataAFTUN“01pouslsy]10UAjdunsstyetyeayI—NoJeay1OUOpIeypsJva01Superotp‘reuNo1uTBUTTE)oT‘kab-O]JOSot UdYoses,‘POOYURUIOMJOyooods148uamp,‘yosodsnO“
The only speech that was deemed orthodox for women to use, was talking into thin air. By doing that it inherently silenced their voice while giving them the illusion of actually being heard. On the contrary, black male preachers were to be heard and remembered.
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‘ayedionsed01pamoyeJouaJaMauOFIIIwap01pasoyjous‘ayyWoyyomnysSutaqax]aut0} 3195JIetp‘onaodos‘youosa8ensur]vulayodsuswIOMyprq ‘soy,‘payovardoymUsUIOM YORIseIT‘poysT|quise19MIeO}OYpuredATT01MOYJosortAepAraAdou]Soy‘OUTOYatJoYorNYDoy}urIng‘yInypareuTwop-s[euoyulSuTYoevesdonaodjoweay}UTpeT}eo-xooavyAvuIUsxpeG“BuTssny‘searSUTYeUT‘sIepsOSuri‘Ireoy)Sut[TJS2910A$,UdTIOM ‘UMEPJOYORIDatp1eURaqsUOTSsNOSIp palesySOYAsuIOOIWeUTyeads0110UpreyseMI}194APuy‘SULeppueYsuJoovue—308 snoa8einod&sem0]UdyodsJousemdUOUdyUaTyvadsOL,
The southern black community had a hierarchy for gender roles and children. Black males typically dominated preaching within the church which led to the women being dominate in "preaching" within the household. The kids were not allowed to give their own opinions on the topics discussed within the house as it was seen as them trying to be "equals" with the adults.
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- Aug 2024
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www.repubblica.it www.repubblica.it
Tags
- SeaCorridor
- Volvo
- Unicredit
- ReCommon
- Snam
- Ford
- BP
- Shell
- T&E
- Eni
- Reclaim Finance
- Kia
- Volkswagen
- Enel
- Stellantis
- Intesa Sanpaolo
- Citigroup
- Greenpeace
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Scadden, David T. Approved Home Study Course in Typewriter Repair and Service. Little Falls, NJ: Typewriter Repair School, 1959. https://site.xavier.edu/polt/typewriters/homestudycourse.pdf.
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www.theguardian.com www.theguardian.com
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2024 werden 6% mehr Menschen auf Kreuzfahrtschiffen unterwegs sein als vor der Pandemie. Neue Studie von Transport & Environment zum Wachstum dieses besonders energieintensiven Teils der Tourismusindustrie. https://www.theguardian.com/environment/article/2024/aug/07/cruisezilla-passenger-ships-have-doubled-in-size-since-2000-campaigners-warn
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drive.google.com drive.google.com
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Case: Female Patient #1, Female, Japanese
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: Childhood onset (HP:0011463)
CaseHPOFreeText: Onset at 2 years
CaseNOTHPOs:
CaseNOTHPOFreeText: 16% OTC activity
CasePreviousTesting:
Variant: NM_000531.5:c.67C>T (p.Arg23*)
ClinVarID: 97292
CAID: CA224742
gnomAD:
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drive.google.com drive.google.com
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Case: Patient #38, Female, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: No family history of disease, mutation is inherited
CasePresentingHPOs: Hyperammonemia (HP:0001987), oroticaciduria (HP:0003218), vomiting (HP:0002013), coma (HP:0001259), lethargy (HP:0001254), seizures (HP:0001250), childhood onset (HP:0011463)
CaseHPOFreeText: Elevated plasma ammonia at 190 umol/L (Normal: 9-30 umol/L), Elevated urinary orotate at 202 mmol/mmol creatinine (Normal: 0-1.5 mmol/mmol creatinine)
CaseNOTHPOs:
CaseNOTHPOFreeText: Normal plasma glutamine at 13.5 umol/L (Normal: 6-30 umol/L), Normal plasma citrulline at 15.75 umol/L (Normal: 7-35 umol/L)
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
Variant: NM_000531.6:c.67C>T (p.Arg23*)
ClinVarID: 97292
CAID: CA224742
gnomAD:
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drive.google.com drive.google.com
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Case: Patient #4, Female, Caucasian
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: Hyperammonemia (HP:0001987),
CaseHPOFreeText: Elevated plasma ammonia concentration at 123 uM/L
CaseNOTHPOs:
CaseNOTHPOFreeText: Anxiety, plasma citrulline at 2 uM/L
CasePreviousTesting: N/A
Variant: NM_000531.5:c.67C>T (p.Arg23*)
ClinVarID: 97292
CAID: CA224742
gnomAD:
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drive.google.com drive.google.com
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Case: Patient #85, Male
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs:
CaseHPOFreeText:
CaseNOTHPOs: Late Onset
CaseNOTHPOFreeText: Milder phenotype
CasePreviousTesting: N/A
Variant: NM_000531.6: c.298+1G>T
ClinVarID: 97160
CAID: CA224544
gnomAD:
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- Jul 2024
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drive.google.com drive.google.com
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Case: patient#5 , female, Italian
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs: irritability(HP:0000737), lethargy(HP:0001254), vomiting(HP:0002013), Oriticaciduria (HP:0003218), low plasma citrulline (HP:0003572), Elevated circulating alanine aminotransferase concentration(HP:0031964), Elevated circulating aspartate aminotransferase concentration (HP:0031956), childhood onset (HP:0011463)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Total RNA was isolated from peripheral blood lymphocytes or lymphoblastoid cell lines and from frozen liver biopsy as described in Chomczynski and Sacchi (1987). For each patient two cDNA syntheses were performed: 10mg of total RNA with 800-1000 ng of oligo dT or 500ng of specific primer NR, mapping in the 3’UTR of OTC cDNA Identification of genetic lesions by amplification of the OTC mRNA, expressed in the liver tissue and intestine, from a non-specific tissue like PBL or lymphoblastoid cell lines. Some mutations, particularly those affecting splicing sites, may have a different expression in liver and PBL . In females, including manifesting carriers, this method allows the identification of deletions and gene rearrangements with certainty, but mutations, decreasing mRNA stability, are unlikely to be detected because the normal allele will constitute the majority of the RNA available for RT-PCR and will be preferentially amplified.
Supplemental Data: Case report section Notes: Hepatomegaly. This mutation, previously reported (Reish et al., 1993), has been correlated with a lethal disease form in a male patient, therefore the mild phenotype in our patient could be explained by a not completely unfavorable X-lyonization
Variant: NM_000531.6: c.928G>T(p.Glu310*)
ClinVarID: 97361
CAID: CA224838
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: no patient #ID, female Disease Assertion: UCD/OTCD
Family Info: NA
Case Presenting HPOs: NA
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: NA
Supplemental Data: TABLE 1, Notes: NA
Variant: NM_000531.6: c.77+1G>T
ClinVarID: 97314
CAID: CA224774
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Click here for additional data file.
DOI: 10.1091/mbc.E20-04-0237-T
Resource: RRID:BDSC_28691
Curator: @bpowell22
SciCrunch record: RRID:BDSC_28691
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Bloomington 38260
DOI: 10.1091/mbc.E20-04-0237-T
Resource: BDSC_38260
Curator: @bpowell22
SciCrunch record: RRID:BDSC_38260
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drive.google.com drive.google.com
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Case: patient #573, male
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs:hyperammonemia (HP:0001987), Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: GDNA extracted from blood leukocytes using the proteinase K/phenol extraction procedure on a model 340 A nucleic acid extractor (Applied Biosystems). 5mg samples of DNA were digested with BamHI, MspI, or TaqI restriction endonuclease, electrophoresed through 1 % agarose gels, and transferred to a nylon membrane by standard procedures. The blots were then hybridized with a radiolabeled full-length cDNA probe for human OTC.
Supplemental Data: TABLE 3,
Variant: NM_000531.6: c.67C>T(p.Arg23*)
ClinVarID:97292
CAID: CA224742
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient SM, male
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs: Hyperammonemia (HP:0001987), Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: GDNA extracted from blood leukocytes using the proteinase K/phenol extraction procedure on a model 340 A nucleic acid extractor (Applied Biosystems). 5mg samples of DNA were digested with BamHI, MspI, or TaqI restriction endonuclease, electrophoresed through 1 % agarose gels, and transferred to a nylon membrane by standard procedures. The blots were then hybridized with a radiolabeled full-length cDNA probe for human OTC.
Supplemental Data: TABLE 3,
Variant: NM_000531.6: c.274C>T(p.Arg92*)
ClinVarID:97151
CAID: CA224530
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #188, male
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test
Supplemental Data: TABLE 1
Variant: NM_000531.6: c.835C>T(p.Gln279*)
ClinVarID: 97341
CAID: CA224811
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #303, female
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs:
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: No specific functional tests indicated
Supplemental Data: In supplemental data files
Variant: NM_000531.6: c.766G>T(p.256Gly*)
ClinVarID: 870326
CAID: CA412722685
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #198, male
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: No specific functional tests indicated
Supplemental Data: In supplemental data files
Variant: NM_000531.6:c.538C>T(p.Gln180*)
ClinVarID: N/A
CAID: CA412724187
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #16, female, Japanese
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs:
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: The severity of missense mutations was assessed using conservation and solvent accessible area of the replaced amino acid, calculated destabilization of mutant proteins and their SIFT and PolyPhen2 scores
Supplemental Data: Kido_et_al_2022_fgene_Data Sheet 2
Variant: NM_000531.6:c.77+1G>T
ClinVarID: 97314
CAID: CA224774
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #56, female, Japanese
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: ,Hyperammonemia (HP:0001987)
Case HPO FreeText: N/A
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.
Supplemental Data: Table 1, patient had a liver transplant at 12yo.
Variant: NM_000531.6:c.940G>T(p.Glu314*)
ClinVarID: N/A
CAID: CA412726302
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: no patient ID, Female
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0003623, HP: 0001987
Case HPO FreeText: Neonatal onset, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Genomic DNAs were extracted from leukocytes, The ten exons and intron-exon boundaries of the OTC gene were PCR amplified and analyzed by Sanger sequencing on an ABI3100 sequencer. Intragenic deletions/duplications were searched for by Multiple Ligation Probe Dependent Amplification assay. Potential impact of non truncating variants on mRNA and protein was predicted using Splice Site Prediction. OTC variants were split into two groups, “severe” and “mild,” based on their impact on the clinical phenotype and on the OTC protein.
Supplemental Data: Table 3, All nuclear family members were tested but no information about their genotype. the condition to be part of this study was the presence of at least one heterozygous female in the pedigree of the patient.
Variant: NM_000531.6:c.766G>T(p.Gly256*)
ClinVarID: 870326
CAID: CA412722685
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: Patient #35, female, Korean
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0011463, HP:0003218, HP: 0001987
Case HPO FreeText: childhood onset, oroticaciduria, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Potential impact of mutations on OTC function and/or folding assessed by multiple alignments of orthologous protein sequences and human OTC and structural data from Protein Data Bank (1C9Y and available orthologs). In M patients, the approximate extent of the deletions assessed by inspection of presence/absence of PCR products. In F patients, the deletions determined by the SALSA multiplex ligation probe amplification (MLPA) KIT P079 OTC (MRC-Holland, Amsterdam, the Netherlands) and the Affymetrix Human SNP 6.0 array (Santa Clara, CA). Sequence spanning 38,211,736 – 38,300,703 bp region on chromosome X (GRCh37) and including OTC was scanned for motifs CCTCCCT, CCTCCTT, CCTCCCTT, CCCCACCCC, CCNCCNTNNCCNC, GGNGGNAGGG and their complements known as being associated with recombination hotspots. Repeats capable of non-B DNA structure formation implicated in double strand breaks (DSBs) were sought by complexity analysis . X-inactivation ratio determined by analysis of methylation status of the human androgen-receptor locus (HUMARA)
Supplemental Data: Table 1&2, This is a large deletion. The minimum plasma ammonia, orotic acid and Gln+Glu concentrations depends on certain age range: Plasma ammonia: neonates <90μmol/l, other <60μmol/l. Urinary orotic acid: 0–1year <6.6mmol/mol creatinine, 1 – 10 years <3.5 mmol/mol creatinine, over 10 years <2.4 mmol/mol creatinine. Serum glutamate + glutamine: 0 – 1 month 200–1200μmol/l, 1 month–1year 200–1100μmol/l, 1year–18years 200–900μmol/l, over 18years 200–800μmol/l.
Variant: NM_000531.6:c.853C>T(p.Gln285*)
ClinVarID: N/A
CAID: CA412723777
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: Patient #34, female, Korean
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0011463, HP:0003218, HP: 0001987
Case HPO FreeText: childhood onset, oroticaciduria, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Potential impact of mutations on OTC function and/or folding assessed by multiple alignments of orthologous protein sequences and human OTC and structural data from Protein Data Bank (1C9Y and available orthologs). In M patients, the approximate extent of the deletions assessed by inspection of presence/absence of PCR products. In F patients, the deletions determined by the SALSA multiplex ligation probe amplification (MLPA) KIT P079 OTC (MRC-Holland, Amsterdam, the Netherlands) and the Affymetrix Human SNP 6.0 array (Santa Clara, CA). Sequence spanning 38,211,736 – 38,300,703 bp region on chromosome X (GRCh37) and including OTC was scanned for motifs CCTCCCT, CCTCCTT, CCTCCCTT, CCCCACCCC, CCNCCNTNNCCNC, GGNGGNAGGG and their complements known as being associated with recombination hotspots. Repeats capable of non-B DNA structure formation implicated in double strand breaks (DSBs) were sought by complexity analysis . X-inactivation ratio determined by analysis of methylation status of the human androgen-receptor locus (HUMARA)
Supplemental Data: Table 1&2, This is a manifesting heterozygote. Serum Gln+Glu was considered elevated. The minimum plasma ammonia, orotic acid and Gln+Glu concentrations depends on certain age range: Plasma ammonia: neonates <90μmol/l, other <60μmol/l. Urinary orotic acid: 0–1year <6.6mmol/mol creatinine, 1 – 10 years <3.5 mmol/mol creatinine, over 10 years <2.4 mmol/mol creatinine. Serum glutamate + glutamine: 0 – 1 month 200–1200μmol/l, 1 month–1year 200–1100μmol/l, 1year–18years 200–900μmol/l, over 18years 200–800μmol/l.
Variant: NM_000531.6:c.717+1G>T(IVS7+1G>T)
ClinVarID: 97298
CAID: CA224753
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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-
drive.google.com drive.google.com
-
Case: Patient #42, female, Korean
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218
CaseHPOFreeText: Childhood onset, hyperammonemia, oroticaciduria
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: Genomic DNA was extracted from peripheral blood leukocytes. A total of 10 coding exons and exon–intron boundaries of the OTC gene were amplified by PCR with customized primers. PCR products were directly sequenced with the same primers . Sequencing results were compared with the established human OTC sequences(NM_000531.5). Multiplex ligation-dependent probe amplification analysis was performed for patients in whom no OTC mutations were identified by direct sequencing using the OTC MLPA kit.
Supplemental Data: Table 1, no range was given for blood ammonia concentration, range given in the tables for glutamine and urine orotate is slightly different than the one in the results paragraphs.
Variant: NM_000531.6:c.958C>T(p.Arg320*)
ClinVarID: 97371
CAID:CA285809
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: Patient #52, female, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: family history of the disease, variant in probands mother and father
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218, HP:0003572
CaseHPOFreeText: childhood onset,, hyperammonemia, oroticaciduria, low plasma citrulline
CaseNOTHPOs:
CaseNOTHPOFreeText: neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, inherited mutation, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate), low protein diet treatment, and continuous veno venous hemodialfiltration
Variant: NM_000531.6:c.703C>T
ClinVarID: N/A
CAID: CA412721652
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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- Jun 2024
- Apr 2024
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archive.org archive.org
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How to Use the Dial Phone, 1927. http://archive.org/details/HowtoUse1927.
Tags
Annotators
URL
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- Mar 2024
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www.facebook.com www.facebook.com
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詹益鑑 Verified account · 45m · Shared with PublicAI 真的取代了一些工作嗎?或者造成一些工作的薪資降低?今天看到這篇實際分析的文章,從2022 年11 月1 日(ChatGPT 發布前一個月)到2024 年2 月14 日,在 Upwork 的自由工作者資料中,分析出幾個事實:1. 下降幅度最大的 3 個類別是寫作、翻譯和客戶服務工作。寫作職位數量下降了 33%,翻譯職位數量下降了 19%,客戶服務職位數量下降了 16%2. 影片編輯/製作工作成長了 39%,圖形設計工作成長了 8%,網頁設計工作成長了 10%。軟體開發職缺也有所增加,其中後端開發職缺成長了 6%,前端/Web 開發職缺成長了 4%3. 翻譯絕對是受打擊最嚴重的工作,每小時工資下降了 20% 以上,其次是影片編輯/製作和市場研究。平面設計和網頁設計工作是最具彈性的。兩人不僅數量增加了,而且時薪也增加了一些。4. 自 ChatGPT 和 OpenAI API 發布以來,與開發聊天機器人相關的工作數量激增了 2000%。如果說當今人工智慧有一個殺手級用例,那就是開發聊天機器人。
下降幅度最大的 3 個類別是寫作、翻譯和客戶服務工作
寫作職位數量下降了 33%,翻譯職位數量下降了 19%,客戶服務職位數量下降了 16%
翻譯絕對是受打擊最嚴重的工作,每小時工資下降了 20% 以上
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- Jan 2024
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docdrop.org docdrop.orgUntitled1
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Celui qui allait ép0user Haoua de- vait étre un homme capable de verser de l’argent et des cadeaux a sa famille, c'est la dot, c’est ainsi.
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www.sciencedaily.com www.sciencedaily.com
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"If we give it to aged mice, they rejuvenate. If we give it to young mice, they age slower. No other therapy right now can do this
for - CAR T cells - anti aging - eliminate senescent cells in mice. - quote - anti aging - CAR T cells
quote - (see below)
- If we give it to aged mice, they rejuvenate.
- If we give it to young mice, they age slower.
- No other therapy right now can do this,
- author: Amor Vegas
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for - CAR T cells - research - anti aging - adjacency - CAR T cells - Michael Levin - Cold Spring Harbor Lab - Corina Amor Vegas - senescent cells - fountain of youth
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Local file Local file
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Silverman, Joseph H., and John T. Tate. Rational Points on Elliptic Curves. 2nd ed. Undergraduate Texts in Mathematics. 1992. Reprint, New York: Springer, 2015.
urn:x-pdf:e59b1cd55350541e359fbb11896edd0c
annotations at: https://jonudell.info/h/facet/?user=chrisaldrich&max=100&exactTagSearch=true&expanded=true&url=urn%3Ax-pdf%3Ae59b1cd55350541e359fbb11896edd0c
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www.youtube.com www.youtube.comYouTube1
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Connecting Changes Everything
https://www.youtube.com/playlist?list=PLxgUkHTvXNob8166Ezozo8NpcJ2Idn7Kw
tagline for AT&T commercials.
I saw one today watching football.
Tags
Annotators
URL
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- Oct 2023
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www.facultyfocus.com www.facultyfocus.com
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Appreciative
Appreciation
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www.nytimes.com www.nytimes.com
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Neue, gigantische Fracking-Projekte in den USA („monster fracks“) verbrauchen enorme Mengen Wasser, so dass die Öl- und Gasfirmen inzwischen auch nach Wasser bohren. Damit wird die durch Übernutzung und globale Erhitzung prekäre Wasserversorgung in vielen Gegenden der USA zusätzlich belastet. Analyse und Reportage in der New York Times, die herazusgefunden hat, dass die monster fracks in Texas inzwischen zwei Drittel der Fracking-Projekte ausmachen. https://www.nytimes.com/interactive/2023/09/25/climate/fracking-oil-gas-wells-water.html
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- Aug 2023
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baijiahao.baidu.com baijiahao.baidu.com
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那么,如何让发起请求的时候,使用我们小号的私钥呢?我们先来看一下执行 clone 代码时候,仓库源那个以 git 开头的链接是什么意思:
给目标服务器配置别名
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moochinaboutltd.bandcamp.com moochinaboutltd.bandcamp.com
- May 2023
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vschsd.org vschsd.org
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Muthu scowled. “I have to write I won’t be rude to myteachers one hundred times.”
on the matilda movie she has to do that
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“That’s because Rukku is gone, Arul! She’s gone because of me.If I hadn’t forced her to leave home—”
i once saw a serie (flash) where the protagonist blamed herself for everything
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He asked how I was doing, and when, as usual, I just said,“Fine,” he wouldn’t let me get away with it.“No,” he said. “You’re not fine, Viji.”I said nothing.
mom asks me how school was and this is always how it plays out
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“I don’t mind if you have no faith in religion, Viji. Just as longas you have faith in the goodness within yourself.
my mother told me this berfore aswell
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I’m not mean about any one religion,” I said. “They’re allequally silly.
i agree
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Soon, I’d setthe whole place yawning.
this same thing happens when augusto shouts "BREEEK"
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Celina Aunty called me into the schoolroom andmotioned me toward one of the empty desks.“Sit,” she ordered. “Write.”“Write?” I said. “Why?”
right when i was going to sleep my mother made me write and practice to pass a test
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I tried a few times but kept choking up, unable to get beyondthe first sentences.
when i get exited or sad the same happens to me
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hen I saw him—scrubbed clean by a nurse, with his hair cutshort and washed and brushed—I could hardly believe it wasMuthu.
when i take a bath i look 10x prettier aswell
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“Life isn’t fair.
famous quote
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Muthu lay in beds near one another. You were each hooked upto a contraption that dripped medicine and food and water into yourveins,
my cousin has once been in this situation
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“Did you use mosquitonets?” “Did you boil the water before you drank it?” “Whatmedication did you try to give her?”
doctors ask the exact same questions to my mother when i go to a hospital
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“Rich boys, for sure,” Arul said. “You have to be rich to wastetime going on escapades at night instead of catching up on precioussleep
i do homework in the middle of the night
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Arul placed his candle beside the others. You watched asintently as when you made your bead necklaces.
ive done this before
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As we walked away, you and Muthu started playing a game,tossing a bit of concrete into the air like a ball and trying to catch itagain before it fell.
i do this with a tenis ball and i catch it with a punch to practice
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The drone of bloodthirsty mosquitoes had wokenme several times during the night, and my arms itched with bites.
This was a huge problem for me when i didnt have a ventilator, i would have to sleep in the couch but sometimes they followed
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My voice came out all panicky. I had avision of a ghost swallowing you whole.
i had a dream i was escaping a ghost
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But I cared. I cared about him as strongly as if we’d known eachother all our lives. I couldn’t imagine our future without him andMuthu in it.
i also met a girl in 5th grade which i loved, and i cared about her like i met her my whole life, but she left...
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But my dad was the best fisherman in our village.
my father is also a good fisherman
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I felt too excited to sleep, so I sneaked out to join him.
this happened once in a sleepover
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“Don’t you ever think about the future?” I challenged him.“No,” Muthu said. “There’s enough to worry about every daywithout worrying about tomorrow.”
seems like the procrastinator version of me
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You set it free, Rukku,” I cut him short. “Now it can goanywhere it feels like. That was really nice of you.”
i once did that because i thought it would go to space and find aliens
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“Life isn’t a competition.”
this was said by Matthew west
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Sullen faced, the boy named Sridar stepped away as Arul joinedus.“How are you, Kumar?” Arul said to the fuzzy-lipped boy.“Look, this is our place,” Kumar replied. “It’s okay for you tocome here, but you can’t bring along every new kid in the city.”“Enough here for us all to share,” Arul said.
this is just like an event of a movie i watched
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I slowly rolled the spicy yellow mixture of rice and vegetablesand meat into little balls with my fingers and licked the sauce offmy hands.
this is exactly what skellig used to do
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“You really never pray?” Arul looked horrified. “Even the wrongGods are better than no God.”
heard that before
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It sounded like our father, O. R. T. Narayan,something something—all in English, not Tamil like Amma’sprayers.
i recognize this prayer and i used to preach it in the USA
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Still, I felt thankful. Thankful we had at least that much. Mostof all, thankful that you were following me without a fuss, withKutti at your heels.
on skellig whisper was at her heels
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“Give me something,” she whined. “I have to look after mybrother. See him?” She gestured at a small boy—stark naked—whowas sleeping behind her.
this situation happened to my family when we went to egypt
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She sat with you, showing you ways to tie pretty knots and braidstrands together.
i tried to learn that when i was in a school on the USA
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I looked behind us to see whom he was shooing.“You!” he yelled. “Get that dog away from my shop!”“It’s a good dog . . .” I began, but the man shook his fist at us.Kutti growled. I picked him up and held his squirming bodytight.
there is a movie where dogs are prohibited in a hotel but someone manages to sneak one in
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“No banana?”“No, sorry.”“Papaya?” you suggested.“No.”“Guava?”“No. No pomegranate, no jackfruit, no oranges, no sapotes, nosweet limes. No nothing.”
seems like my fridge
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“Want to come for a swim?” Muthu grinned at you. “The water’snice and cool.”
i like swimming
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I couldn’t help petting him. His coat was smooth. He wiggledand sniffed my hand.
same, cant help petting my dog no matter what
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“Get away from that puppy, Rukku. It might bite.”
My dog loves to bite
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Homesicknesspinched my heart for a moment. I thought of the rare weekendswhen Appa was away and Amma had enough energy to join us so wecould cook a meal together.
how i felt when going to the nr
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The smell of roasting chillis tickled my nose
the smell of crabs makes me feel that way
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The conductor looked at me and then at you, and stuck a handin his pocket and pulled out a hard green sweet that had melted outof shape.
i have been to ubers that have this function
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But I should have known she’d never tell.
On Breaking Bad the mother would never tell, despite desperately wanting to tell her husband's secret
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he set packages wrapped in newspaper onthe cracked kitchen counter. “Presents for my girls.”
My father also gave me a wrapped present once
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She didn’t finish her sentence. She didn’t need to. She’d told mea million times how scared she was that if you set foot in a hospital,the doctors might lock you away in “a mental institution.”
On a book i read a person died because they were too scared to go to the doctor for the same reason.
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We’d just finished our dinner when we heard Appa’s heavyfootsteps. The sound of him staggering up the stairs to ourapartment told us all we needed to know.
This situation is similar, when my father arrives his footsteps are heavy so i know he arrived.
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- Apr 2023
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vschsd.org vschsd.org
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payasam
I have eaten something like this.
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For many people, “Camelot” is more familiar as a metaphor than as a musical — it depicts a noble effort to create a just society, often associated with the Kennedy administration, because Jacqueline Kennedy, in an interview shortly after President John F. Kennedy’s assassination, mentioned her husband’s fondness for the show, and quoted a final lyric: “Don’t let it be forgot, that once there was a spot, for one brief shining moment, that was known as Camelot.”
The Kennedy administration became culturally associated with Camelot because Jacqueline Kennedy mentioned her husband's affinity for the show in an interview with Theodore H. White for LIFE Magazine following his death and quoted the show's closing lyric: “Don’t let it be forgot, that once there was a spot, for one brief shining moment, that was known as Camelot.”
Somewhat curious that there's T. H. White of The Once and Future King and a separate Theodore H. White who interviewed Jackie Kennedy following her husband's death with mentions of Camelot.
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- Mar 2023
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www.statology.org www.statology.org
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Some people argue that the Welch’s t-test should be the default choice for comparing the means of two independent groups since it performs better than the Student’s t-test when sample sizes and variances are unequal between groups, and it gives identical results when sample sizes are variances are equal. In practice, when you are comparing the means of two groups it’s unlikely that the standard deviations for each group will be identical. This makes it a good idea to just always use Welch’s t-test, so that you don’t have to make any assumptions about equal variances.
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URL
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krebsonsecurity.com krebsonsecurity.com
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A new breach involving data from nine million AT&T customers is a fresh reminder that your mobile provider likely collects and shares a great deal of information about where you go and what you do with your mobile device — unless and until you affirmatively opt out of this data collection. Here’s a primer on why you might want to do that, and how.
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- Jan 2023
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www.investopedia.com www.investopedia.comT-Test1
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T-Test: What It Is With Multiple Formulas and When To Use Them
https://www.investopedia.com/terms/t/t-test.asp A t-test is an inferential statistic used to determine if there is a significant difference between the means of two groups and how they are related. T-tests are used when the data sets follow a normal distribution and have unknown variances, like the data set recorded from flipping a coin 100 times.
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Annotators
URL
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www.scribbr.com www.scribbr.com
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An Introduction to t Tests | Definitions, Formula and Examples
How to TTEST
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- Dec 2022
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www.usgo.org www.usgo.org
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- Nov 2022
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archive.org archive.org
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Pg. 52, 53, & 54
- Dietrich Bonheoffer, the 1st German lutheran Pator and theologians opposed Adolf Hitler's anti-semitic legislation called the Aryan Clause on April 7, 1933
- Reich church damded loyalty oath from all German Protestants who held church offices
- Bonheoffer refused and took lead in the alternative, confessing church movement
- he helped many jews escape the Germans as well as training other church leaders to do the same
- In June 1939 Bonhoeffer went to the U.S for the sake of his safety
- Bonheoffer specializes in theology
- He felt a calling to be involved in church and national affairs
- Bonheoffer worried that he is leaving god behind because he is not following his calling by staying to the U.S
- He was not allowed to return to Germany and this worried him
- June 20th, he feels uneasy and wishes to return home because God is giving him a sign "The reasons one gives for an action to others and to one's self are certainly inadequate... In the last resort one acts from a level which remains hidden from us. So we can only ask God to judge and forgive us.. it is now in his hands" (Cahalan, 54)
- July 9, 1939 he returns to Germany and resumes his efforts to resit hitlier and the Reich
- He wanted to assassinate Hitler (pg. 54)
- April 5, 1943 he was arrested for his activity in the underground resistance movement
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URL
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www.allocine.fr www.allocine.frMR 731
- Oct 2022
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latin.stackexchange.com latin.stackexchange.com
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[T.S.] Eliot stood—as he once famously said of himself—for conservatism in politics, classicism in literature, and Catholicism, or rather Anglo-Catholicism, in religion. He looked back into the past, the mediaeval past, as a confirmed laudator temporis acti and in the mediaeval past he looked back not only to John Donne among the metaphysical poets, nor only to William Shakespeare among the Elizabethan dramatists, but before them to the great Dante among Italian poets and behind Dante, though not so obviously, to St. Thomas Aquinas among the scholastic theologians. (From "T.S. Eliot's Metaphysics" by Peter Milward, Culture and Civilization 2009.)
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openintro-ims.netlify.app openintro-ims.netlify.app
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However, its tails are thicker than the normal distribution’s, meaning observations are more likely to fall beyond two standard deviations from the mean than under the normal distribution.
This is what Dr. Herring meant by "fatter tails."
Below is why.
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- Aug 2022
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www.news-medical.net www.news-medical.net
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Thomas, L. (2021, October 14). SARS-CoV-2 induces tissue immune memory. News-Medical.Net. https://www.news-medical.net/news/20211014/SARS-CoV-2-induces-tissue-immune-memory.aspx
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www.theguardian.com www.theguardian.com
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Beaumont, P. (2021, December 17). T-cells in Pfizer Covid jab recipients stay robust against severe illness. The Guardian. https://www.theguardian.com/world/2021/dec/17/t-cells-pfizer-covid-jab-robust-against-severe-illness-south-africa-research
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findmymobile.samsung.com findmymobile.samsung.com
- Jun 2022
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www.themarginalian.org www.themarginalian.org
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T. S. Eliot believed that the poet’s mind incubates fragmentary thoughts into beautiful ideas
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www.theatlantic.com www.theatlantic.com
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In the 1920s and ’30s, the NRA was at the forefront of legislative efforts to enact gun control. The organization’s president at the time was Karl T. Frederick, a Princeton- and Harvard-educated lawyer known as “the best shot in America”—a title he earned by winning three gold medals in pistol-shooting at the 1920 Summer Olympic Games. As a special consultant to the National Conference of Commissioners on Uniform State Laws, Frederick helped draft the Uniform Firearms Act, a model of state-level gun-control legislation.
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- May 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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DICER1 syndrome encompasses a variety of benign and malignant manifestations including multinodular goitre
Gene: DICER1 PMCID: PMC8451242 PMID: 34552563 Pathogenic Inheritance Pattern: Autosomal Dominant MultipleDiseaseEntities Disease Entity: DICER1 syndrome, multinodular goitre, cystic nephroma, anaplastic renal sarcoma, Wilms tumour, differentiated thyroid carcinoma, gynandroblastoma, ciliary body medulloepithelioma, embryonal rhabdomyosarcoma, pineoblastoma, pituitary blastoma, kidney cyst, pulmonary cyst, Sertoli-Leydig Cell Tumor. Mutation: Germline MultipleGeneVariants Variant & Clinvar IDs: c.3452_3453del (485534), c.316del (no ClinVar ID), c.171_172insAC (no ClinVar ID), c.3434del (no ClinVar ID), c.988C>T (933007), c.5388dup (no ClinVar ID) Zygosity: None provided. Case: At time of operation, the goitre patients living in Denmark were ages 21, 12, 21, 8, 14, and 16. Four underwent total thyroidectomies, and two underwent partial thyroidectomies. The patient originally aged 21 previously had a kidney cyst at age 14 and a pulmonary cyst at an unknown age. The patient aged 14 at time of partial thyroidectomy later manifested a Sertoli-Leydig Cell Tumor at age 15. All six patients were female. CasePresentingHPO: None provided. CasePreviousTesting: thyroidectomy gnomAD: ENSG00000100697.10, https://gnomad.broadinstitute.org/gene/ENSG00000100697 Mutation Type: Frameshift, Nonsense
Tags
- MultipleDiseaseEntities
- c.3434del
- Age:21
- AutosomalDominant
- Frameshift
- cancer
- c.3452_3453del
- Age:8
- goiter
- PMID:34552563
- ClinvarID:933007
- Age:12
- c.988C>T
- c.316del
- thyroidectomy
- Gene:DICER1
- female
- Mutation:Frameshift
- Cohort
- c.171_172insAC
- PMCID:PMC8451242
- Germline
- ClinvarID:485534
- Age:14
- ClinvarID:NotProvided
- Pathogenic
- Mutation:Nonsense
- gnomAD:ENSG00000100697.10
- goitre
- Nonsense
- c.5388dup
- DICER1
- MultipleGeneVariants
Annotators
URL
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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DICER1 syndrome is an autosomal-dominant, pleiotropic, tumor-predisposition disorder arising from pathogenic germline variants in DICER1, which encodes an endoribonuclease integral to processing microRNAs (1).
Gene Name: DICER1 PMCID: PMC5443331 PMID: 28323992 HGNCID: not found Inheritance Pattern: autosomal dominant Disease Entity: thyroid cancer and familial multinodular doiter Mutation: germline loss-of-function mutation Zygosity: not provided Variant: c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.3726C>A; p.Tyr1242a, c.3675C>G; p.Tyr1225a, c.3675C>G; p.Tyr1225a Family Information: 145 individuals with a DICER1 germline mutation and 135 controls from 48 families Case: family members used; both males and females used and no significant differences seen among sex; ages range from 20-40 with carriers being significantly younger than controls; no significant differences seen among ethnicity but participants located from the US, UK, and Great Britain CasePresentingHPOs: thyroid cancer or MNG diagnosis common to those with a DICER! mutation but with no chemotherapy or radiation treatment yet CasePreviousTesting: tested levels of thyroid-stimulating hormone, thyroxine, thyroxine-binding globulin, and serum albumin; thyroid palpation; thyroid ultrasound; Sanger or next-generation sequencing assays gnomAD: n/a Mutation Type: missense
Tags
- PMCID:PMC5443331
- MutationType:missense
- Variant: c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.3726C>A; p.Tyr1242a, c.3675C>G; p.Tyr1225a, c.3675C>G; p.Tyr1225a
- Zygosity:notprovided
- PMID:28323992
- FamilyInformation:145individualswithaDICER1germlinemutationand135controlsfrom48families
- InheritancePattern:autosomaldominant
- HGNCID:notfound
- DiseaseEntity:thyroidcancerandfamilialmultinodulardoiter
- Mutation:germlineloss-of-functionmutation
- Gene:DICER1
Annotators
URL
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 mutations.
HGNCID:
Tags
- Disease Entity: Embryonal rhabdomyosarcoma (ERMS)
- case wt: m&f 0.5-19
- Mutation: c.3580delA
- Mutation: c.5428G>T
- Mutation: c5113G>A
- Inheritance Pattern: Non- inheritance(DNA methylation)
- pathogenicity: only 2 of 17 patients died from disease
- Mutation: c.5125G > A
- GeneName: DICER1
- Mutation: c.4267G>T
- Zygosity: Some Cases displayed homozygosity
- Variant: Clinvar ID not identified
- Family Information: not identified
- Mutation: c.4420A>G
- Mutation: c.5438 A> C
- PMID (PubMed ID): 33846547
- case mut: f 28-67
- Mutation: 5428 G>C
Annotators
URL
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- Apr 2022
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www.sciencedirect.com www.sciencedirect.com
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Payne, R. P., Longet, S., Austin, J. A., Skelly, D. T., Dejnirattisai, W., Adele, S., Meardon, N., Faustini, S., Al-Taei, S., Moore, S. C., Tipton, T., Hering, L. M., Angyal, A., Brown, R., Nicols, A. R., Gillson, N., Dobson, S. L., Amini, A., Supasa, P., … Zawia, A. A. T. (2021). Immunogenicity of standard and extended dosing intervals of BNT162b2 mRNA vaccine. Cell, 184(23), 5699-5714.e11. https://doi.org/10.1016/j.cell.2021.10.011
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twitter.com twitter.com
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Edward Nirenberg 🇺🇦 [@ENirenberg]. (2021, November 30). This is also not limited to the vaccine- any infection we encounter will do the same thing. It’s how we evolved to get around a massive genetic and bioenergetic challenge and it’s brilliant and it’s happening all the time regardless of any vaccines we get. [Tweet]. Twitter. https://twitter.com/ENirenberg/status/1465698637434933254
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www.graphpad.com www.graphpad.com
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difference between SD and SEM
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towardsdatascience.com towardsdatascience.com
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In this case, for a test to be statistically significant, p-value must be lower than 0.05.
statistical significance should be less than 5%
tf your confidence that the results are not due to chance is 95%
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www.stat.colostate.edu www.stat.colostate.edu
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We are 99% confident that the true average “attitude” difference betweenliving environments is between 1.32 and 7.88. At a significance level of 0.01we can say that living in a minority environment is associated with higherscore
99% confident that the true average (result) is between these two numbers;
at 1% (0.01) significance, we can scientifically assume there is a causal relationship
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- Mar 2022
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Bellesi, S., Metafuni, E., Hohaus, S., Maiolo, E., Marchionni, F., D’Innocenzo, S., La Sorda, M., Ferraironi, M., Ramundo, F., Fantoni, M., Murri, R., Cingolani, A., Sica, S., Gasbarrini, A., Sanguinetti, M., Chiusolo, P., & De Stefano, V. (2020). Increased CD95 (Fas) and PD-1 expression in peripheral blood T lymphocytes in COVID-19 patients. British Journal of Haematology, 191(2), 207–211. https://doi.org/10.1111/bjh.17034
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twitter.com twitter.com
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Eric Topol. (2022, February 28). A multimodal #AI study of ~54 million blood cells from Covid patients @YaleMedicine for predicting mortality risk highlights protective T cell role (not TH17), poor outcomes of granulocytes, monocytes, and has 83% accuracy https://nature.com/articles/s41587-021-01186-x @NatureBiotech @KrishnaswamyLab https://t.co/V32Kq0Q5ez [Tweet]. @EricTopol. https://twitter.com/EricTopol/status/1498373229097799680
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deadline.com deadline.com
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https://deadline.com/2022/03/discovery-sets-board-of-directors-warnermedia-merger-1234979430/
New board for Warner Bros. Discovery after $43 billion merger.
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twitter.com twitter.com
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Anthony J Leonardi, PhD, MS. (2022, February 28). Damn, nice find https://t.co/cJRhB2k4zH [Tweet]. @fitterhappierAJ. https://twitter.com/fitterhappierAJ/status/1498113886846914567
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- Feb 2022
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www.nature.com www.nature.com
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Hall, V. G., Ferreira, V. H., Wood, H., Ierullo, M., Majchrzak-Kita, B., Manguiat, K., Robinson, A., Kulasingam, V., Humar, A., & Kumar, D. (2022). Delayed-interval BNT162b2 mRNA COVID-19 vaccination enhances humoral immunity and induces robust T cell responses. Nature Immunology, 1–6. https://doi.org/10.1038/s41590-021-01126-6
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- Jan 2022
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www.ijidonline.com www.ijidonline.com
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Paolucci, S., Cassaniti, I., Novazzi, F., Fiorina, L., Piralla, A., Comolli, G., Bruno, R., Maserati, R., Gulminetti, R., Novati, S., Mojoli, F., Baldanti, F., Bruno, R., Mondelli, M., Brunetti, E., Matteo, A. D., Seminari, E., Maiocchi, L., Zuccaro, V., … Ferrari, A. (2021). EBV DNA increase in COVID-19 patients with impaired lymphocyte subpopulation count. International Journal of Infectious Diseases, 104, 315–319. https://doi.org/10.1016/j.ijid.2020.12.051
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sheetstutorial.com sheetstutorial.com
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How to do t test in google sheets
T-test tutorial
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www.frontiersin.org www.frontiersin.org
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Townsend, L., Dyer, A. H., Naughton, A., Kiersey, R., Holden, D., Gardiner, M., Dowds, J., O’Brien, K., Bannan, C., Nadarajan, P., Dunne, J., Martin-Loeches, I., Fallon, P. G., Bergin, C., O’Farrelly, C., Cheallaigh, C. N., Bourke, N. M., & Conlon, N. (2021). Longitudinal Analysis of COVID-19 Patients Shows Age-Associated T Cell Changes Independent of Ongoing Ill-Health. Frontiers in Immunology, 12. https://www.frontiersin.org/article/10.3389/fimmu.2021.676932
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www.agenciasinc.es www.agenciasinc.es
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Los linfocitos T no nos salvarán del coronavirus, pero ayudarán a resolver el puzle inmunitario. (n.d.). Agencia SINC. Retrieved January 17, 2022, from https://www.agenciasinc.es/Reportajes/Los-linfocitos-T-no-nos-salvaran-del-coronavirus-pero-ayudaran-a-resolver-el-puzle-inmunitario
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www.theguardian.com www.theguardian.com
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Halliday, J., & correspondent, J. H. N. of E. (2022, January 17). ‘Christmas was awful’: On the Omicron frontline at the Royal Preston hospital. The Guardian. https://www.theguardian.com/world/2022/jan/17/christmas-was-awful-on-the-omicron-frontline-at-the-royal-preston-hospital
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twitter.com twitter.com
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Anthony J Leonardi, PhD, MS. (2022, January 4). Wow. 17 years of T cell immunity guys. Looks like it works as advertised. Https://t.co/bkSizFXK49 [Tweet]. @fitterhappierAJ. https://twitter.com/fitterhappierAJ/status/1478392475240869899
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twitter.com twitter.com
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ReconfigBehSci on Twitter: ‘T cell immunologist getting very upset at people arguing that high levels of transmission are a good thing’ / Twitter. (n.d.). Retrieved 12 January 2022, from https://twitter.com/SciBeh/status/1481178244678402048
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drive.google.com drive.google.com
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In his article, Gorbachev says that perestroika was meant for the people and that its goal was to emancipate human beings to give people ownership of their lives and of their country. This stood out to me because the believed it was right to give people freedom which is a great point.
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- Dec 2021
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www.nature.com www.nature.com
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Adamo, S., Michler, J., Zurbuchen, Y., Cervia, C., Taeschler, P., Raeber, M. E., Sain, S. B., Nilsson, J., Moor, A. E., & Boyman, O. (2021). Signature of long-lived memory CD8+ T cells in acute SARS-CoV-2 infection. Nature, 1–9. https://doi.org/10.1038/s41586-021-04280-x
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www.nature.com www.nature.com
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Heitmann, J. S., Bilich, T., Tandler, C., Nelde, A., Maringer, Y., Marconato, M., Reusch, J., Jäger, S., Denk, M., Richter, M., Anton, L., Weber, L. M., Roerden, M., Bauer, J., Rieth, J., Wacker, M., Hörber, S., Peter, A., Meisner, C., … Walz, J. S. (2021). A COVID-19 peptide vaccine for the induction of SARS-CoV-2 T cell immunity. Nature, 1–9. https://doi.org/10.1038/s41586-021-04232-5
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www.bmj.com www.bmj.com
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Mahase, E. (2021). Covid-19: Antibody boost after third dose varies greatly by vaccine, study finds. BMJ, 375, n3011. https://doi.org/10.1136/bmj.n3011
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- Nov 2021
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www.facebook.com www.facebook.com
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docdrop.org docdrop.org
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I have used the Oxford text of T. W. Allen, 2nd edition, and followed itexcept in a very few places
The source of the translation of the Odyssey by Richmond Lattimore is the 2nd edition of the Oxford text of T. W. Allen.
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certificates.creativecommons.org certificates.creativecommons.org
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Public Knowledge resource
spoiler: there is also an example about licensing a T-Rex shower nozzle 3-D printed.
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- Sep 2021
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twitter.com twitter.com
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John Burn-Murdoch. (2021, August 23). NEW: in the last couple of weeks there have a lot of new studies out assessing vaccine efficacy, many of which have touched on the question of waning immunity. Unsurprisingly, these have prompted a lot of questions. Time for a thread to summarise what we do and don’t know: [Tweet]. @jburnmurdoch. https://twitter.com/jburnmurdoch/status/1429878189011111936
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- Jul 2021
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twitter.com twitter.com
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Thushan de Silva on Twitter. (n.d.). Twitter. Retrieved 29 July 2021, from https://twitter.com/Thushan_deSilva/status/1418511974435115011
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www.nejm.org www.nejm.org