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Results 1 - 10 of 74 for robert syndrome 2
  1. Lissencephaly with cerebellar hypoplasia 
    ... Registry: Lissencephaly type 3 Genetic Testing Registry: Norman-Roberts syndrome Cobblestone lissencephaly National Organization for Rare Disorders (NORD) LISSENCEPHALY 2; LIS2 LISSENCEPHALY 3; LIS3 PubMed Chang BS, Duzcan ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  2. Roberts syndrome 
    ... the first letters of the surnames of the two families first diagnosed with this disorder. Roberts syndrome is a rare disorder. Its prevalence is unknown. ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  3. ESCO2 gene 
    ... Zou H, Jabs EW. The molecular mechanism underlying Roberts syndrome involves ... Hou F, Zou H. Two human orthologues of Eco1/Ctf7 acetyltransferases are both ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  4. Warsaw breakage syndrome 
    ... Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome ... J Biol Chem. 2012 Jan 6;287(2):1007-21. doi: 10.1074/jbc.M111.276022. ...
    https://medlineplus.gov/genetics/condition/warsaw-breakage-syndrome - Genetics
  5. Noonan syndrome 
    ... 37657. Epub 2016 Apr 25. Citation on PubMed Roberts AE, Allanson ... features. Horm Res. 2009 Dec;72 Suppl 2:3-7. doi: 10.1159/000243772. Epub 2009 ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  6. Short QT syndrome 
    ... 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
  7. Ehlers-Danlos syndrome 
    ... Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. ... Ehlers-Danlos Syndrome. 1999 Sep 2 [updated 2019 Feb 21]. In: Adam MP, Feldman ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  8. Fraser syndrome 
    ... Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip ... Nat Genet. 2003 Jun;34(2):203-8. doi: 10.1038/ng1142. Citation on ...
    https://medlineplus.gov/genetics/condition/fraser-syndrome - Genetics
  9. Branchio-oculo-facial syndrome 
    ... on PubMed Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker ... In: Am J Hum Genet. 2009 Feb;84(2):301. Citation on PubMed or Free article on ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
  10. TFAP2A gene 
    ... on PubMed Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker ... In: Am J Hum Genet. 2009 Feb;84(2):301. Citation on PubMed or Free article on ...
    https://medlineplus.gov/genetics/gene/tfap2a - Genetics
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