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89 results

  1. SPTBN4 Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK559435
    ... of imprinted genes in the paternally derived PWS/Angelman syndrome (AS) region of chromosome 15 by one of ...
  2. Spinal Muscular Atrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1352
    ... of imprinted genes in the paternally derived PWS / Angelman syndrome region (15q11.2-q13) of chromosome 15 by ...
  3. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... March 24, 1999; Last Update: May 11, 2017. Angelman Syndrome Aditi I Dagli, Jennifer Mathews, and Charles A ...
  4. Educational Materials — Genetic Testing: Current Approaches - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK279899
    ... 923,087-86,979,631 BMPR1A GRID1 NRG3 Angelman syndrome (15q11.2-q13 maternal deletion ) 7 Mb 4 ...
  5. UNC80 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK453434
    ... expression or function of maternally inherited UBE3A allele Angelman syndrome See footnote 1. Bursts of laughter, macrostomia, tongue ...
  6. TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK114628
    ... of imprinted genes in the paternally derived PWS/Angelman syndrome (AS) region of chromosome 15 by one of ...
  7. Tonsillitis | Tonsillitis Symptoms | Tonsillitis Treatment | MedlinePlus 
    https://medlineplus.gov/tonsillitis.html
    ... the... Article: Outcomes After Tonsillectomy in Children With Angelman Syndrome. Article: A randomized controlled trial comparing treatment efficacy ...
  8. Excluded Studies - Treatment of Depression in Children and Adolescents: A Systematic Review - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK555854
    ... results from a phase 2 adult and adolescent Angelman Syndrome clinical trial: a randomized, double-blind, safety and ...
  9. Genetic Testing Overview - Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum ... 
    https://www.ncbi.nlm.nih.gov/books/NBK310460
    ... disorders such as autism and Prader-Willi or Angelman syndromes. MLPA can easily discriminate the relative copy number ...
  10. What's New in MeSH 
    https://www.nlm.nih.gov/mesh/meshdescriptorschanged_2024.html
    ... Anemia, Sideroblastic D000756 Glycophorins D006021 Personal Satisfaction D010549 Angelman Syndrome D017204 Glypicans D053673 Personality Disorders D010554 Animals, Poisonous ...
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