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Results 1 - 10 of 119 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. ESCO2 gene 
    ... 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/gene/esco2 - Genetics
  3. Blood Diseases and Down Syndrome (National Down Syndrome Society)  
    Blood Diseases & Down Syndrome ... Down Syndrome/Related Issues ... Down Syndrome ... National Down Syndrome Society
    https://ndss.org/resources/blood-diseases-syndrome - External Health Links
  4. 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
  5. 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
  6. 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
  7. KRAS gene 
    ... related disorders. Curr Opin Pediatr. 2007 Dec;19(6):636-44. doi: ... clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  8. CHD3 gene 
    ... 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/genetics/gene/chd3 - Genetics
  9. 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
  10. 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
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