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1,896 results
  1. Williams syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/williams-syndrome
    ... gov Catalog of Genes and Diseases from OMIM WILLIAMS-BEUREN SYNDROME; WBS Scientific Articles on PubMed PubMed References Bhattacharjee Y. Friendly faces and unusual minds. Science. ...
  2. 7q11.23 duplication syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/7q1123-duplication-syndrome
    ... gov Catalog of Genes and Diseases from OMIM WILLIAMS-BEUREN REGION DUPLICATION SYNDROME Scientific Articles on PubMed PubMed References Berg JS, Brunetti-Pierri N, Peters SU, Kang ...
  3. 7q11.23 Duplication Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK327268
    ... to 1.8-Mb heterozygous duplication of the Williams-Beuren syndrome critical ... in the reference genome (NCBI Build hg19). Note: The phenotype of ...
  4. 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 ...
  5. GTF2IRD1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/gtf2ird1
    ... GTF2IRD1 Gene and Variant Databases NCBI Gene ClinVar References Dai L, Bellugi U, Chen XN, Pulst-Korenberg AM, Jarvinen-Pasley A, Tirosh-Wagner T, Eis PS, Graham J, Mills D, Searcy Y, Korenberg JR. Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I ...
  6. 1p36 deletion syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/1p36-deletion-syndrome
    ... Genes and Diseases from OMIM CHROMOSOME 1p36 DELETION SYNDROME, DISTAL Scientific Articles on PubMed PubMed References Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC. Further ...
  7. NLM Digital Collections - E-Mail from Joshua Lederberg to William Winkenwerder and Brian Hughes [on terms of reference .... 
    Publication: Produced: 3 July 2003
    resource.nlm.nih.gov/101584906X13506
    E-Mail from Joshua Lederberg to William Winkenwerder and Brian Hughes [on terms ... 3 pages nlm:nlmuid-101584906X13506-doc 101584906X13506 http://resource. ...
  8. GTF2I gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/gtf2i
    ... GTF2I Gene and Variant Databases NCBI Gene ... of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a ...
  9. Branchiooculofacial Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK55063
    ... et al 1996 , Ahituv et al 2004 , Nelson & Williams 2004 ]. Gene ... branchiooculofacial (BOF) syndrome. Milunsky et al [2008] described a familial whole- ...
  10. LIMK1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/limk1
    ... between cells. Health Conditions Related to Genetic Changes Williams syndrome The LIMK1 gene is located in a region ... chromosome 7 that is deleted in people with Williams syndrome, which is a developmental disorder characterized by mild ...
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