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Results 1 - 10 of 102 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. 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
  9. 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
  10. Noonan syndrome 
    ... SOS1 gene mutations cause an additional 10 to 15 percent, and RAF1 and RIT1 genes each account ... of cases. The cause of Noonan syndrome in 15 to 20 percent of people with this disorder ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
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