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89 results

  1. ... normal RAI1 testing prior to establishing the correct diagnosis. 4. ... for Angelman syndrome. 6. One individual reported by Lugtenberg et ...
  2. ... 5. Overgrowth Disorders to Consider in the Differential Diagnosis of ... features of BWS & Angelman syndrome); assoc w/features of TNDM, SRS, & BWS. ...
  3. ... delay*).ti,ab. *down syndrome/ 13 use emez angelman syndrome/ or down syndrome/ or fragile x syndrome/ 15 ... 23 down syndrome/ 24 23 use emez 25 angelman syndrome/ or down syndrome/ or fragile x syndrome/ 26 ...
  4. ... 13 *down syndrome/ 14 13 use emez 15 angelman syndrome/or down syndrome/or fragile x syndrome/ 16 ... 20 *down syndrome/ 21 20 use emez 22 angelman syndrome/or down syndrome/or fragile x syndrome/ 23 ...
  5. ... du Chat Syndrome (National Human Genome Research Institute) Angelman Syndrome (National Institute of Neurological Disorders and Stroke) Intellectual ... 1 deficiency: MedlinePlus Genetics (National Library of Medicine) ... (National Library of Medicine) Aspartylglucosaminuria: MedlinePlus ...
  6. ... 18p minus syndrome 18q minus syndrome Alagille syndrome Angelman syndrome Charcot-Marie-Toothe syndrome Conotruncal anomaly face syndrome ... developmental disorder’ or ‘PDD’ 14 Specific syndromes (original) ‘angelman syndrome’/exp OR ‘happy puppet’ OR ‘prader-willi’/exp ...
  7. ... expression or function of maternally inherited UBE3A allele Angelman syndrome See footnote 1. Microcephaly, 2 seizures, & absence of ... defect or a pathogenic variant of UBE3A . See Angelman Syndrome . 2. Microcephaly in DYRK1A syndrome appears more severe ...
  8. ... syndrome/ 16 15 use emez 17 adrenoleukodystrophy/ or angelman syndrome/ or cerebral palsy/ or coffin-lowry syndrome/ or ... descriptor: [adrenoleukodystrophy] this term only #20. mesh descriptor: [angelman syndrome] this term only #21. mesh descriptor: [cerebral palsy] ...
  9. ... in mosaic ICR1 hypomethylation. 3 15q11.2-q13 Angelman syndrome Hypomethylation of IC on maternal allele Mosaic hypomethylation ... guidelines for molecular analysis of Prader-Willi and Angelman syndromes. Eur J Hum Genet. 2019;27:1326-40. [ ...
  10. ... treatment for only the following conditions: Dravet syndrome, Angelman syndrome, and Rett syndrome. Table A-1 Included interventions ... Gene therapy Gene therapy only for Dravet syndrome, Angelman syndrome, or Rett syndrome Setting Criteria Any setting. Data ...
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