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Results 1 - 10 of 122 for robert syndrome 5
  1. Roberts syndrome 
    ... Ozono K, Jabs EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet. 2005 May;37(5):468-70. doi: 10.1038/ng1548. Epub 2005 ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  2. ESCO2 gene 
    ... Ozono K, Jabs EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet. 2005 May;37(5):468-70. doi: 10.1038/ng1548. Epub 2005 ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  3. Noonan syndrome 
    ... Morgan MB, Muzny DM, Stein L, McPherson JD, Roberts AE, Gibbs RA, Neel BG, Kucherlapati R. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8. doi: 10.1073/pnas. ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  4. Branchio-oculo-facial syndrome 
    ... on PubMed Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008 May;82(5):1171-7. doi: 10.1016/j.ajhg.2008. ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
  5. TFAP2A gene 
    ... on PubMed Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008 May;82(5):1171-7. doi: 10.1016/j.ajhg.2008. ...
    https://medlineplus.gov/genetics/gene/tfap2a - Genetics
  6. 3MC syndrome 
    ... ajmg.a.30878. Citation on PubMed Urquhart J, Roberts R, de Silva D, ... Am J Med Genet A. 2016 May;170A(5):1216-24. doi: 10.1002/ajmg.a.37564. ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  7. Short QT syndrome 
    ... 038. Citation on PubMed Gollob MH, Redpath CJ, Roberts JD. The short QT ... P. Short QT syndrome--5 years of progress. J Electrocardiol. 2005 Oct;38( ...
    https://medlineplus.gov/genetics/condition/short-qt-syndrome - Genetics
  8. Lissencephaly with cerebellar hypoplasia 
    ... Registry: Lissencephaly type 3 Genetic Testing Registry: Norman-Roberts syndrome ... of RELN in lissencephaly and neuropsychiatric disease. Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):58-63. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  9. CHD3 gene 
    ... Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida ... and language. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018- ...
    https://medlineplus.gov/genetics/gene/chd3 - Genetics
  10. Snijders Blok-Campeau syndrome 
    ... Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida ... and language. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018- ...
    https://medlineplus.gov/.../condition/snijders-blok-campeau-syndrome - Genetics
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