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685 results
  1. Williams Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1249
    ... RM, Barros Filho TE. Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center. Clinics (Sao Paulo). 2014;69:452-6. [ ...
  2. Birth Defects 
    https://medlineplus.gov/birthdefects.html
    ... Child Health and Human Development) Also in Spanish Williams Syndrome (For Parents) ... Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  3. 7q11.23 Duplication Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK327268
    ... 5- to 1.8-Mb duplication of the Williams-Beuren syndrome critical region identified on ... in the reference genome (NCBI Build 38). Note: (1) Since these ...
  4. Angelman Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1144
    ... View Cite this Page Dagli AI, Mathews J, Williams CA. Angelman Syndrome. 1998 Sep 15 [Updated 2021 Apr 22]. ... Download Bulk download GeneReviews data from FTP ...
  5. ADCY5 Dyskinesia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK263441
    ... posted live 29 August 2014 (fh) Original submission References Literature Cited Aquino CC, Lang AE. Tardive dyskinesia syndromes: current concepts. Parkinsonism Relat Disord. 2014; 20 Suppl 1:S113–7. [ PubMed : 24262160 ] Barrett MJ, Williams ES, Chambers C, Dhamija R. Autosomal recessive inheritance ...
  6. Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK97260
    ... Genome Variation Society ( varnomen ​.hgvs.org ). See Quick Reference for an ... information of patients with HHH syndrome. Dr José A Camacho's work was previously ...
  7. Developmental Disabilities 
    https://medlineplus.gov/developmentaldisabilities.html
    ... Intellectual Disability (Center for Parent Information and Resources) Williams Syndrome (Genetic and Rare Diseases Information Center) Also in ... Sutton syndrome: MedlinePlus Genetics (National Library of Medicine) Williams syndrome: MedlinePlus Genetics (National Library of Medicine) Wolf-Hirschhorn ...
  8. Excluded Studies - Interventions Targeting Sensory Challenges in Children With Autism Spectrum Disorder—An Update - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK448045
    ... S. Social phenotypes of autism spectrum disorders and williams syndrome: similarities and differences. Front Psychol. 2012;3:247. ... in Neurodevelopmental Disorders: The Case of Binding in Williams Syndrome and Autism With and Without Language Impairment. Lang ...
  9. Excluded Studies - Medical Therapies for Children With Autism Spectrum Disorder—An Update - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK448263
    ... S. Social phenotypes of autism spectrum disorders and williams syndrome: similarities and differences. Front Psychol. 2012;3:247. ... in Neurodevelopmental Disorders: The Case of Binding in Williams Syndrome and Autism With and Without Language Impairment. Lang ...
  10. Progressive Myoclonus Epilepsy, Lafora Type - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1389
    ... Review Neuronal Ceroid-Lipofuscinoses – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Mole SE, Williams RE. ... 1993] Review SCARB2-Related Action Myoclonus – Renal ...
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