5 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Genotypic and phenotypic spectrum of hereditary spastic paraplegia 56: insights from novel CYP2U1 variants and a literature review
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    link.springer.com/article/10.1186/s12883-026-04908-3
  3. Mar 2026
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery
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    pmc.ncbi.nlm.nih.gov/articles/PMC12958015/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Sequencing and health data resource of children of African ancestry
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    pmc.ncbi.nlm.nih.gov/articles/PMC12970555/
  6. Apr 2025
  7. www.medrxiv.org www.medrxiv.org
    Sequencing and health data resource of children of African ancestry
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    medrxiv.org/content/10.1101/2025.03.22.25324419v1
  8. Jan 2025
  9. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic
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    pmc.ncbi.nlm.nih.gov/articles/PMC11727247/