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Results 1 - 10 of 95 for robert syndrome 15
  1. Roberts syndrome 
    ... Zou H, Jabs EW. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  2. ESCO2 gene 
    ... Zou H, Jabs EW. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  3. Short QT syndrome 
    ... 038. Citation on PubMed Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol. 2011 Feb 15;57(7):802-12. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/condition/short-qt-syndrome - Genetics
  4. Cardiofaciocutaneous syndrome 
    ... J Med Genet A. 2006 Aug 1;140(15):1681-3. doi: 10.1002/ajmg.a.31315. No abstract available. Citation on PubMed Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G. The cardiofaciocutaneous syndrome. J Med Genet. 2006 Nov;43(11):833- ...
    https://medlineplus.gov/.../condition/cardiofaciocutaneous-syndrome - Genetics
  5. Lissencephaly with cerebellar hypoplasia 
    ... Lissencephaly 3 Lissencephaly syndrome, Norman-Roberts type Norman-Roberts syndrome Genetic Testing Registry: Lissencephaly type 3 Genetic Testing Registry: Norman-Roberts syndrome Cobblestone lissencephaly National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  6. Skin abscess 
    ... In: Roberts JR, Custalow CB, Thomsen TW, eds. Roberts and Hedges' ... toxic shock syndrome). In: Bennett JE, Dolin R, Blaser MJ, eds. ...
    https://medlineplus.gov/ency/article/000863.htm - Medical Encyclopedia
  7. 15q11-q13 duplication syndrome 
    ... one extra copy of a region of chromosome 15 called 15q11.2-q13.1. In particular, the ... copy). People normally inherit one copy of chromosome 15 from each parent. However, some genes on this ...
    https://medlineplus.gov/.../condition/15q11-q13-duplication-syndrome - Genetics
  8. National Institute of Environmental Health Sciences (National Institute of Environmental Health Sciences)  
    ... April 19, 2022 - Preventing Disease Through Bioinformatics April 15, 2022 - Exploring the Role of the Biological Clock ... in Drinking Water: Responding to Community Concerns June 15 - Protecting Firefighter Health April 14 - Spending Time in ...
    https://www.niehs.nih.gov - Other Resources
  9. PRKAG2 gene 
    ... on PubMed Gollob MH, Green MS, Tang AS, Roberts R. PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  10. TNXB gene 
    ... four cases. Clin Dysmorphol. 2012 Jan;21(1):15-18. doi: 10.1097/MCD.0b013e32834c4bb7. Citation on ... syndrome. Am J Med Genet A. 2005 May 15;135(1):75-80. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/genetics/gene/tnxb - Genetics
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