286 Matching Annotations
  1. Last 7 days
    1. Disease: Von Willebrand Disease (VWD) type 1

      Patient(s): 13 yo, female and 14 yo, female, both Italian

      Variant: VWF NM_000552.5: c.820A>C p. (Thr274Pro)

      Dominant negative effect

      Heterozygous carrier

      Variant located in the D1 domain on VWF

      Phenotypes:

      heterozygous carriers have no bleeding history

      reduced VWF levels compatible with diagnosis of VWD type 1

      increased FVIII:C/VWF:Ag ratio, suggests reduced VWF synthesis/secretion as possible phathophysiological mechanism

      Normal VWFpp/VWF:Ag ratio

      Modest alteration of multimeric pattern in plasma and platelet multimers

      plasma VWF showed slight increase of LMWM and decrease of IMWM and HMWM

      Platelet VWF showed quantitative decrease of IMWM, HMWM, and UL multimers

      In silico analysis:

      SIFT, ALIGN, GVD Polyphen 2.0, SNP&GO, Mutation Taster, Pmut all suggest damaging consequences.

      PROVEAN and Effect suggest neutral effect

      according to ACMG guidelines this variant was classified as pathogenic

    1. The 2024 Phoenix Type-In by [[Joe Van Cleave]]

      Platen shrinkage

      • most typewriters are 6 lines per inch
      • 6.5 lines per inch based on actual measurement per JVC on one of his machines
      • 2mm shrinkage??
      • Per Bob/Typewriter Muse 1.1

      Bob had a machine that was supposed to be 1.27 but was measured at 1.259 when pulled off. So shrinkage of platens can be roughly fifteen hundredths of an inch (0.015" or about 0.4mm)

      Bob at Typewriter Muse custom tunes platens to the typewriter. Only place doing platens outside of JJ Short.

      JVC's partner took him to the Phoenix Type-in for her birthday.

      Bill Wahl of Mesa Typewriter Exchange

      grandfather started in the 40s<br /> bill started in 73<br /> part time help to 92 and now by himself<br /> does his benchwork after hours and chats during the day

      Ted Munk

      adding machine database consideration

      looking for service manuals for: - royal portables 50-59<br /> - skyriter 40s / 50s<br /> - sm9 service manual

      Royal Mercury manual is a clear, well-written manual. The Smith-Corona series 5 typewriter manuals are great too, though a bit more dense.

      Brian Goode and Christy organized this year's Phoenix Type-In.

  2. Oct 2024
    1. this article reveals howcommon themes are being discursively constructed in relation to the future of public libraries,maker cultures, and informal learning. The analysis highlights tensions and questions thatemerge through the discursive construction of making, makers, and makerspaces in the field oflibrary and information studies. The article employs discourse analysis to examine professionallibrary journal articles and blog posts published from 2011–14 that focus on makerspaces inpublic libraries.

      This section of the abstract highlights that the article is a literature review that will be looking at other published articles on Maker education

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    Annotators

    1. Disease: Von-willebrand Disorder, type 1

      Patient 1 Variant: VWF NM_000552.5: c.4135C>T p.(Arg1379Cys) Exon 28

      Family: History not mentioned

      Patient 1 phenotype: near normal VWF:Ag and WVF:RCo levels RIPA within normal range Platelet VWF levels were normal normal pattern for multimeric analysis of plasma Slightly reduced VWF levels

      In silico predictions available:

      I-Mutant 3.0 value = -1.36 PYMOL prediction = substitution of ARG 1379 with a cysteine results in the loss of hydrogen bonds with Lys1407 and Lys1408, predicted change in secondary structure of A1 domain

  3. Sep 2024
    1. heterozygous c.G380A variant in GP1BA (NM_000173.7) (Figure 1B), resulting in a missense substitution of an arginine with a glutamine at position 127

      Disease: platelet-type von Willebrand disease (PT-VWD)

      Patient: 14 yo, Male

      Variant: GP1BA NM_000173.7:c.389G>A p.(Arg127Gln), Heterozygous, Gain-of-Function (GOF)

      Located in LRR5 domain of GP1BA

      Family: Mother did not refer any bleeding symptoms (variant absent in mother) Father not available for collection of clinical history or platelet function testing

    1. Type-in activities:<br /> - learning about typewriters, both using and how they work;<br /> - demonstrations of typewriter maintenance, cleaning, how to change a ribbon, and small repairs for common problems - typewriter tool showcases - what tools might you need to maintain, clean, and repair your typewriter? - lots of machines to try out, which might best suit your writing style, and typing touch? If you don't have a typewriter, this is a great way to try some out before buying your first one - typewriter purchasing and collecting advice - encouraging typing as a distraction and screen-free writing tool - writing (fiction, non-fiction, poetry) along with potential writing prompts (this could dovetail in with other library-related writing endeavors); - A group story: A single typewriter is reserved to one side upon which each participant can contribute by typing a single sentence to create a collaborative/group story "exquisite corpse"-style; - typewriter art and arttyping - Speed typing contest (with small prizes) - We'll bring stationery (paper, envelopes, stamps) to encourage participants to type letters to friends or family (bring an address for someone you'd like to write to); - typewriter swap and sale (optional depending on the venue's perspective; sales are not the primary purpose here) - typewriter repairs using 3D printing or designing replacement parts (if the venue can support this) - typewriter handicrafts (typewriter covers and sewing/repairing cases) - typewriter resources (repair shops, where to find ribbon, how old is my machine?, et al.) - a possible typewriter mystery game? - share stories - encourage community

      For a local library-specific type in:<br /> - library card applications which can be typewritten for potential patrons who don't have a library card - typewriter books (particularly if hosted at a library; place a hold on several typewriter-related books which attendees can browse through at the event and check out afterward) - 3D printing typewriter keys, spare parts; design of replacement parts for 3D printing

      Attendees are encouraged to bring one (or many more of their own favorite manual typewriters) to use, showcase, or demonstrate to others, but having your own typewriter is NOT a requirement for attendance.

    1. Joe Van Cleave hypothesizes that the slightly blurry and/or ghosting letters on typewriters may be the result of the typebar just hitting the typing guide and moving slightly as they do thereby creating issues with the type clarity.

      https://youtu.be/GpLpTkhSGWc?si=MFmshF-LPPa1CyUP&t=1190

    1. I visited the Supply Sergeant store on Hollywood Blvd yesterday, and for $15 they were selling a "regulator bag." This was 11 3/4" x 11 3/4" x 3". Perfect for carrying a Hermes Baby/Rocket! Here is another, but more expensive: https://www.akona.com/products/product?productId=11406

      u/pbasch is in the LA area

  4. Aug 2024
    1. Cleaning Type Slugs Fast ! Removing Clogged Dirty Ink Typewriter Service How to Shine Those Faces by [[Phoenix Typewriter]]

      Duane cleans type slugs by draping the typewriter with cloths and then using a metal bristle brush and lacquer thinner. Small picks or an X-Acto knife can help to remove gunk from the interiors of the closed letters.

  5. Jul 2024
    1. Joe Van Cleave shows how to raise/lower individual type slugs by bending the typebars, particularly the ones out toward the end, without using custom typewriter repair tools.

      time stamp 19:25

    1. Two "5" keys (?!?) (SC Poweriter)

      reply to u/Deep-Seaworthiness48 at https://www.reddit.com/r/typewriters/comments/1e5gh4p/two_5_keys_sc_poweriter/

      SMC Typewriter from late 60s/early 70s with a pound/5 key in the !/1 position whose 5 is duplicated in the usual %/5 position

      Things like that happened on alternate language/region typewriters. I've got a Dutch keyboard layout that repeats a % symbol twice.

      It's likely that the pound symbol was needed/required so they pulled one from a pre-existing typeslug and key cap on a keyboard where the £/5 key was common and replaced the 1/! which in the era was widely known could be done by alternate means (aka lower case 'l' and '.' backspace '''.

      The value of the £ was more important to the typist and because of typeface manufacture was probably easier to do in the £/5 existing combination from something like the English No. 1028, International No. 1060 keyboard, the Brazilian No. 1065, or the Danish No. 1047 all of which paired the £/5. See also: https://munk.org/typecast/2023/02/03/1954-smith-corona-scm-typewriter-type-styles-and-keyboards-catalog/

      Off hand, I don't see another S-C keyboard combination from that time period that had a £ paired with any other glyph/character. In the "change-a-type" time period they likely wouldn't have done a custom black key for the £/5 when they were already manufacturing one in a matching white. If they didn't also swap out the key at the far right end of that bank, I would expect it to be a standard black '+/=' key cap and slug.

    1. ribbon carrier (vibrator) not moving

      reply to u/67comet at https://www.reddit.com/r/typewriters/comments/1e4hu0s/smith_corona_electra_120_ribbon_carrier_not_moving/

      That piece is called a ribbon vibrator which moves the ribbon up and down. They generally operate on gravity and as a result they need to be clean and free from oil, gunk, hair, dust, etc. Usually they slide up and down freely. There's a colloquial saying in the typewriter space that "A typewriter isn't really broken unless it's clean and broken."

      Occasionally ribbon vibrators can become bent which makes them inoperable and this can be remedied with some light forming (bending) with an appropriate screwdriver or needle nosed plier. You can search YouTube and you'll find a variety of videos for cleaning and forming these back into shape so that they slide cleanly.

      As for your missing 1/! slug, it's unlikely that you'll find someone selling just the slug itself and then you'll need to solder it on perfectly and/or adjust it slightly with appropriate tools to get the right alignment. Far better is to check around with repair shops that might have the same or similar machines which they're parting out and then you could request one. Your best bet is to purchase the entire typebar and slug assembly from a donor machine which you can then swap out into your machine and skip the soldering. For this https://www.youtube.com/watch?v=pFMu6dUROGA can give you tips.

      To find donor machines, try repair shops on this list: https://site.xavier.edu/polt/typewriters/tw-repair.html

  6. Jun 2024
  7. May 2024
    1. Bruder, Jessica. “Click, Clack, Ding! Sigh ...” The New York Times, March 30, 2011, sec. Fashion. https://www.nytimes.com/2011/03/31/fashion/31Typewriter.html.

    2. “Like a jam session for people who like typewriters,” said Michael McGettigan, 56, a local bike shop owner who came up with the idea. “You had unions do sit-ins and hippies do be-ins, so I thought, ‘We’ll do a type-in.’ ”
    1. Notable is the fact that no top-level type fields exist in an ACDC. This is because the Schema, s, field itself is the type field for the ACDC and its parts
    1. The term "Type-Out" was coined by Tom at Cambridge Typewriter in MA to refer to the practice of having a Type-In outside in the sunshine. The first such Type-Out was held in front of Cambridge Typewriter on Oct 22, 2011.
    1. One of the first thing I noticed was the rubber on this foot was sticking. This is the resting spot for the basket shift. Moving it up or down will adjust where the lower case letters strike the platen. I removed the old sticky rubber. There are two adjustments here, you can’t see the other one, but it’s looks the same. One is for lower case letters the other is for upper case. This is called the “on feet” adjustment. If you ever have the top of an upper case letter not imprinting or not level with the lower case letters, look at this adjustment. A good way to tell is to type HhHh, and see if the bottoms of the letters line up.
  8. Apr 2024
  9. Mar 2024
    1. https://archive.org/details/run-de-1986-10/page/120/mode/2up

      "RUN – Unabhängiges Commodore Computermagazin", Ausgabe 10/Oktober 1986, which has a hexdump code listing of a C64 Zettelkasten

      ᔥ[Michael Gisiger[]] in mastodon: (@gisiger@nerdculture.de)

      Lust auf #Retrocomputing und #PKM mit einem #Zettelkasten? Bitte schön, in der Oktober-Ausgabe 1986 des #Commodore Magazins RUN findet sich ein Listing für den #C64 dazu. Viel Spass beim Abtippen 😅

      https://archive.org/details/run-de-1986-10/page/120/mode/2up

      See additional conversation at: https://www.reddit.com/r/c64/comments/1bg0ja1/does_anyone_have_the_zettelkasten_program_from/?utm_source=share&utm_medium=web2x&context=3

    1. taste. its a matter of taste, aka personality type.<br /> some people see life as a game of patience, they seek security, stability, monotony, linearity.<br /> some people see life as a game of luck, they seek freedom, dynamics, variation, chaos.

  10. Feb 2024
  11. Jan 2024
    1. 1:10:00 identity politics: the only stable "identity" is personality type, which is inborn and constant for life.<br /> my heresy: i found a hypothesis for the question: how must we connect different personality types to create stable groups?<br /> "the system" likes my work so much, they are threatening to bust my door, steal my stuff, and throw me in jail for five years, as a punishment for publishing my radical answer to the question: who are my friends?<br /> my book: pallas. who are my friends. group composition by personality type

  12. Dec 2023
    1. The thing most obvious about the type systems of Java, C, C++, Pascal, and many other widely-used “industry” languages is not that they are statically typed, but that they are explicitly typed.In other words, they require lots of type declarations. (In the world of less explicitly typed languages, where these declarations are optional, they are often called “type annotations”.) This has nothing to do with static types. continued
  13. Nov 2023
    1. blah. this surveillance system is one big personality test.<br /> the problem is, they do not want a balance of all personality types or "natural order",<br /> but they do a one-sided selection by personality type.<br /> aka socialdarwinism, socialism, survival of the social, social credit score, civilization, high culture, progress, "made order", human laws, human rights, humanism, ...

  14. Oct 2023
  15. Sep 2023
    1. A record can be viewed as the computer analog of a mathematical tuple, although a tuple may or may not be considered a record, and vice versa, depending on conventions and the specific programming language.
    2. An object in object-oriented language is essentially a record that contains procedures specialized to handle that record; and object types are an elaboration of record types. Indeed, in most object-oriented languages, records are just special cases of objects, and are known as plain old data structures (PODSs), to contrast with objects that use OO features.
    3. A record type is a data type that describes such values and variables.
    4. In type theory, product types (with no field names) are generally preferred due to their simplicity
    1. Most typed functional programming languages implement tuples directly as product types
    1. Modules do not add anything to the global (window) scope. Modules always are in strict mode. Loading the same module twice in the same file will have no effect, as modules are only executed once. Modules require a server environment.
  16. Jun 2023
  17. May 2023
    1. Emphasizing lifetime-polymorphism can also make type inference untenable, a design choice that wouldn’t fit OCaml.

      References or sources? Why? Presumably there's some research into this?

    1. Typewriter Cleaning and Repair Basics #2 Type Bars, Case, and Crinkle Finish

      https://www.youtube.com/watch?v=82O_iUAI5og


      Segment comb cleaning - isopropyl alcohol (gentler solvent) - odorless mineral spirits - Lacquer thinner (maybe a bit too aggressive) - naphtha (lighter fluid) take care for flammability and ventilation

      Work solvent into bearing between type bar and segment comb. To dry things out one can used compressed air when done or just air dry.

      If sticking keys not due to being gummed up, bend portions slightly for better alighment.

      Do not lubricate the segment comb.

      Only lubricate the carriage rails when necessary.

      Exterior cleaning

      Brass bristle or nylon bristle brushes (toothbrushes) can be used to clean the exterior of the typewriter and/or cases with mild detergents or other solvents. Depending on the finish, try the brush and solvent on a small portion to determine colorfastness and potential scratching first.

  18. Apr 2023
  19. Mar 2023
  20. Feb 2023
    1. [Episode!]! represents an array of Episode objects. Since it is also non-nullable, you can always expect an array (with zero or more items) when you query the appearsIn field. And since Episode! is also non-nullable, you can always expect every item of the array to be an Episode object.

      Note that this still allows an empty array, []. It only disallows: null and [null].

    1. If you want a workaround for the case where you can't just replace key with a string literal, you could write your own user-defined type guard function called hasProp(obj, prop). The implementation would just return prop in obj, but its type signature explicitly says that a true result should cause obj to be narrowed to just those union members with a key of type prop: function hasProp<T extends object, K extends PropertyKey>( obj: T, prop: K ): obj is Extract<T, { [P in K]?: any }> { return prop in obj; } and then in your function, replace key in a with hasProp(a, key): function f3(a: A) { const key = 'b'; if (hasProp(a, key)) { return a[key]; // okay } return 42; }
  21. Dec 2022
    1. type switches

      type switch 是一种固定的格式吗?还是基于 switch 条件控制的?

      A type switch is a construct ``` func do(i interface{}) { switch v := i.(type): case int:

      case string:

      default:

      } ```

    2. Type switches

      type switch 是一种固定的格式吗?还是基于 switch 条件控制的? A type switch is a construct ``` func do(i interface{}) { switch v := i.(type): case int:

      case string:

      default:

      } ```

    1. in this moment Chris and the deer have their owncoagulation: fusing into one “buck” (and obviously Peele was playing uponthis terminology associated with the Black male slave), they jointly chargeand kill their enemy. Together, the “vermin” strike back
    2. Chris makes use of thedead deer; another (more mystical) analysis could posit that the deer takesrevenge on the hunter, using Chris’s body as a vehicle
    3. First, the conflation of the deerwith the devaluation of Black life nods to the long-standing tradition of usinganimals to speak back to the power structures upheld by plantation slaveryin the form of animal folktales. And second, this deer comes roaring back tolife. He gets his revenge on the family that made his noble head into a trophy.The taxidermied deer is a speaking animal that has a kind of second life, andthere are multiple ways we might read its importance in Chris’s escape

      back to life, revenge, trophy, head, speaking animal with second life, the deer also fights back

    4. the deer strikes back
    5. Like the trickster tales discussed above, the films we are lookingat here do not make animals the focal point, but use them as a means of“thinking with” humans.
    6. The trickster is an animal low on the peckingorder (like a rabbit) who finds himself in a jam and must use his wits, charms,and other skill sets to outfox his more powerful enemies. He is an animalsurrogate that speaks softly of strategies for resistance
    7. Wagner emphasizes thatsuch animal tales often provided coded ways of imparting strategies forresistance and that this story has historical connections not only to the tropeof the speaking animal from African trickster mythologies like the spiderAnansi, but also perhaps, to Aesop’s animal fable
    8. educe animals to mere metaphors, similes, or symbolsdo not seem promising for theorizing ethical recognition of actual animals.Donna Haraway, for example, criticizes philosophical texts that show a “pro-found absence of curiosity about or respect for and with actual animals,even as innumerable references to diverse animals are invoked.” 15 SusanMcHugh, meanwhile, suggests that “the aesthetic structures of metaphor,though precariously supporting the human subject, seem unable to bearanimal agency.”16 An
    9. She maybelieve the comparison reveals the moral horror of industrial animal agri-culture, but, as Bénédicte Boisseron argues, such comparisons “instrumen-talize” Blackness in a “self-serving” way, ignoring the complex and ongoingBlack struggle against dehumanizing discourses and institutions in order toframe “the animal” as “the new black.
    10. remind us of the historical reduction of the human to the status of ananimal under transatlantic slavery, but also were used as a mode of resistancefor enslaved peoples

      first half is type 1, first half is type 2

    11. Rather than viewing fables as operating with a purely substitutivelogic, where the animal stands in for the human, recent criticism explores thepossibility that the fable can imagine relationality and even allyship amongspecies
    12. lens of alliance, not solely analogy
    13. Rather, the appearance of animals in some recentfilms highlights the unequal treatment of Black lives in America in a mannerthat continues the fable tradition, and simultaneously emphasizes the human
    14. Theseworks encode various strategies of survival in an era in which Black livescontinue to be devalued
    15. Any resistance must be sanitized soas to be tolerable” for the general audience. 5 But resistance also works not bybeing sanitized, but by being hidden in plain sight, coded as symbols legibleto some but not to all. The use of animal fables has a long-standing historydating back to slavery as providing such a coded language of resistance

      get out use of deer ... chris, black resistance, fables...taxidermy hidden in plain sight, coded/only chris to understand

    16. Wagner notes that theweaker animals use their wits as a means of overcoming the unequal powerdistribution in the world they navigated

      slavery fables weak/vermin intro get out deer...wits and taxidermy

    17. he “speaking animal,” which acknowledgesthe dialectic capacity of the symbolic animal of fables to stage a conversationabout subjugation and resistance, but simultaneously, to point beyond itselfto the reality of animal life.

      speaking animals ... speaking through eyes/perspective

    18. Paraphrasing Joel Chandler Harris, BryanWagner writes that animal stories were “political allegories in which therelative position of the weaker animals corresponded to the global per-spective of the race.”

      thow dean uses deer and how poe uses cat ... not how chris uses deer

    1. interval values can be written using the following verbose syntax: [@] quantity unit [quantity unit...] [direction] where quantity is a number (possibly signed); unit is microsecond, millisecond, second, minute, hour, day, week, month, year, decade, century, millennium, or abbreviations or plurals of these units
    1. My freely downloadable Beginning Mathematical Logic is a Study Guide, suggesting introductory readings beginning at sub-Masters level. Take a look at the main introductory suggestions on First-Order Logic, Computability, Set Theory as useful preparation. Tackling mid-level books will help develop your appreciation of mathematical approaches to logic.

      This is a reference to a great book "Beginning Mathematical Logic: A Study Guide [18 Feb 2022]" by Peter Smith on "Teach Yourself Logic A Study Guide (and other Book Notes)". The document itself is called "LogicStudyGuide.pdf".

      It focuses on mathematical logic and can be a gateway into understanding Gödel's incompleteness theorems.

      I found this some time ago when looking for a way to grasp the difference between first-order and second-order logics. I recall enjoying his style of writing and his commentary on the books he refers to. Both recollections still remain true after rereading some of it.

      It both serves as an intro to and recommended reading list for the following: - classical logics - first- & second-order - modal logics - model theory<br /> - non-classical logics - intuitionistic - relevant - free - plural - arithmetic, computability, and incompleteness - set theory (naïve and less naïve) - proof theory - algebras for logic - Boolean - Heyting/pseudo-Boolean - higher-order logics - type theory - homotopy type theory

  22. Nov 2022
    1. by using symbols as keys, you will be able to use the implicit conversion of a Mash via the #to_hash method to destructure (or splat) the contents of a Mash out to a block

      Eh? The example below:

      symbol_mash = SymbolizedMash.new(id: 123, name: 'Rey') symbol_mash.each do |key, value| # key is :id, then :name # value is 123, then 'Rey' end

      seems to imply that this is possible (and does an implicit conversion) because it defines to_hash. But that's simply not true, as these 2 examples below prove:

      ``` main > symbol_mash.class_eval { undef :to_hash } => nil

      main > symbol_mash.each {|k,v| p [k,v] } [:id, 123] [:name, "Rey"] => {:id=>123, :name=>Rey} ```

      ``` main > s = 'a' => a

      main > s.class_eval do def to_hash chars.zip(chars).to_h end end => :to_hash

      main > s.to_hash => {a=>a}

      main > s.each Traceback (most recent call last) (filtered by backtrace_cleaner; set Pry.config.clean_backtrace = false to see all frames): 1: (pry):85:in __pry__' NoMethodError: undefined methodeach' for "a":String ```

    2. Hashie does not have built-in support for coercing boolean values, since Ruby does not have a built-in boolean type or standard method for coercing to a boolean. You can coerce to booleans using a custom proc.

      I use: ActiveRecord::Type::Boolean.new.cast(value)

  23. Oct 2022
    1. disport itself happily in its new and extended Quadrivium withoutpassing through the Trivium. But the scholastic tradition, though broken andmaimed, still lingered in the public schools and universities:

      Is it possible that with the flowering of the storehouse of knowledge and the rise of information overload following Gutenberg's moveable type, we became overly enamored with Sayers' subject-based Quadrivium that we forgot to focus on the basics of the Trivium?

  24. Sep 2022
    1. get usually

      This apparent error in the text is most likely a typo where two words should appear in the opposite order, making the sentence read "People working together in organizations usually get things done..."

  25. Aug 2022
  26. Jun 2022
  27. May 2022
    1. ```html

      Choose your monster's colors:

      <div> <input type="color" id="head" name="head" value="#e66465"> <label for="head">Head</label> </div> <div> <input type="color" id="body" name="body" value="#f6b73c"> <label for="body">Body</label> </div>

      ```

      ```js colorPicker.addEventListener("input", updateFirst, false); colorPicker.addEventListener("change", watchColorPicker, false);

      function watchColorPicker(event) { document.querySelectorAll("p").forEach(function(p) { p.style.color = event.target.value; }); } ```

    1. DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1

      GeneName: DICER1 PMCID: PMC7859642 HGNCID: Unavailable Inheritance Pattern: Autosomal dominant. Disease Entity: Familial pleuropulmonary blastoma (PPB), cervix embryonal rhabdomyosarcoma, multinodular goiter, nasal chondromesenchymal hemartoma, Ciliary body medulloepithelioma, Sertoli-Leydig Cell Tumor (SLCT), differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, cystic nephroma, Wilm's tumor and sarcomas of different sites including, amongst others, the uterine cervix, kidney and brain. Mutation: Germline Zygosity: Heterozygose Variant: No ClinVarID present. Family Information: No family outline Case: No specified information of patients included. CasePresentingHPO's: n/a CasePrevious Testing: n/a gnomAD: n/a Mutation Type: nonsense, frameshift, or splice affected.

    1. DICER1 syndrome is an autosomal-dominant,pleiotropic, tumor-predisposition disorder arisingfrom pathogenic germline variants in DICER1, whichencodes an endoribonuclease integral to processingmicroRNAs

      DICER1 is the gene name. PubMed ID, HGCNCID, and Variant: I can't find Inheritance Pattern: autosomal-dominant The disease entity: DICER1 syndrome The type of mutation: germline. Zygosity: not known. Family Information: a family was used, DICER1 carriers, and non DICER1 variant used, some of the family members had tumors from DICER1 Case Information: mean age is 34, the range of age is 18.6 to 43 years, male, and female used, ethnicity can't find Case Presenting HPO: cancer testing, chemotherapy, radiotherapy gnomeAD: 9.2,8.3.2 Mutation type: Pleiotropic, loss of function, missense

  28. Apr 2022
    1. As we all experience the world differently, the way of learning each of us is diverse. Comprehending how we learn things would help the teachers to understand their students and they don’t have to see any students lagging. Every kid doesn’t come first in the class. It is not because they have a smaller brain size. It is because their brain would acknowledge a different procedure of learning. In this article we are going to discuss the 4 types of learning styles so that you can understand – what type of learner are you?
    1. Marc Lipsitch. (2021, July 20). At the risk of boiling down too much and certainly losing some detail, one way to summarize this wonderful thread is that when we think about vaccine effectiveness, we should think of 4 key variables: 1 which vaccine, 2 age of the person, 3 how long after vax, 4 vs what outcome. [Tweet]. @mlipsitch. https://twitter.com/mlipsitch/status/1417595538632060931

    1. Gutenberg used his second edition of the Catholicon to experiment with casting type not letter by letter but in two- line slugs that could be reused in later printings, saving the labor of distributing then resetting the type letter by letter.
  29. Mar 2022
    1. assumes that the function identifier f has a particular type

      How is the initial assumption choosen? Does it start with a completely generic type and then tries to narrow it down?

  30. Feb 2022