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Results 1 - 10 of 30 for robert syndrome 6
  1. Roberts syndrome 
    ... Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am J Hum Genet. 2005 Dec;77(6):1117-28. doi: 10.1086/498695. Epub 2005 ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  2. Warsaw breakage syndrome 
    ... Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts ... syndrome helicase. J Biol Chem. 2012 Jan 6;287(2):1007-21. doi: 10.1074/jbc. ...
    https://medlineplus.gov/genetics/condition/warsaw-breakage-syndrome - Genetics
  3. Short QT syndrome 
    ... J Am Coll Cardiol. 2011 Aug 2;58(6):587-95. doi: 10.1016/j.jacc.2011.03.038. Citation on PubMed Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol. 2011 ...
    https://medlineplus.gov/genetics/condition/short-qt-syndrome - Genetics
  4. Cardiofaciocutaneous syndrome 
    ... 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):833-42. doi: 10.1136/jmg.2006.042796. Epub 2006 Jul 6. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/.../condition/cardiofaciocutaneous-syndrome - Genetics
  5. Snijders Blok-Campeau syndrome 
    ... Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida ... doi: 10.1038/s41467-018-06014-6. Erratum In: Nat Commun. 2019 Feb 15;10( ...
    https://medlineplus.gov/.../condition/snijders-blok-campeau-syndrome - Genetics
  6. 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
  7. Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 
    ... postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome ... Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams ...
    https://medlineplus.gov/...ogyria-polydactyly-hydrocephalus-syndrome - Genetics
  8. Noonan syndrome 
    ... 8; NS8 NOONAN SYNDROME 7; NS7 NOONAN SYNDROME 6; NS6 NOONAN SYNDROME 9; NS9 NOONAN SYNDROME ... VD, Reid JG, Tworog-Dube E, Morgan MB, Muzny DM, Stein L, McPherson JD, Roberts AE, Gibbs RA, Neel BG, Kucherlapati R. Next- ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  9. Critical congenital heart disease 
    ... FOXH1 GATA4 GATA6 GDF1 HAND1 NKX2-5 NKX2-6 SMAD6 ZFPM2 Most cases of CCHD are sporadic, ... Genetic Testing Registry: Congenital heart defects, multiple types, 6 Genetic Testing Registry: Ebstein anomaly Genetic Testing Registry: ...
    https://medlineplus.gov/.../critical-congenital-heart-disease - Genetics
  10. 15q11-q13 duplication syndrome 
    ... The seizures usually develop between the ages of 6 months and 9 years. Some people with dup15q ... doi: 10.1111/epi.12530. Epub 2014 Feb 6. Citation on PubMed DiStefano C, Gulsrud A, Huberty ...
    https://medlineplus.gov/.../condition/15q11-q13-duplication-syndrome - Genetics
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