10 Matching Annotations
  1. Jun 2019
  2. europepmc.org europepmc.org
    Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy.
    1
    1. jamcam11 26 Jun 2019
      Nonsyndromic intellectual disability
      categorical modifier HPO
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    URL

    europepmc.org/articles/PMC6054605/
  3. science.sciencemag.org science.sciencemag.org
    Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
    1
    1. jamcam11 14 Jun 2019
      P = 0.01

      doesn't match the figure

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    URL

    science.sciencemag.org/content/362/6420/eaat6576.full
  4. May 2019
  5. Local file Local file
    Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature
    6
    1. jamcam11 13 May 2019
      Enlarged ventricles

      ventriculomegaly

      HPO
    2. jamcam11 13 May 2019
      ituitarystalk hypoplasi
      HPO anatomy radiology term
    3. jamcam11 13 May 2019
      Patient 1
      case identifier
    4. jamcam11 13 May 2019
      general or cortical atrophy
      radiology term HPO
    5. jamcam11 13 May 2019
      neuronal migration defect
      HPO
    6. jamcam11 13 May 2019
      enlarged cisterna magna
      HPO

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  6. Apr 2019
  7. Local file Local file
    Sarcomas Associated With Genetic Cancer Predisposition Syndromes: A Review
    2
    1. jamcam11 24 Apr 2019
      screening, surveillance, and interventional measures,

      will need to consider locally available options for all of these

    2. jamcam11 24 Apr 2019
      excess toxicities withparticular cytotoxic therapies

      indication for genetic testing

      testing indication

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