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Roberts syndrome
- Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to ...
- ... 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) ...
- ... Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. Anemia. 2010;2010:565268. ...
- ... 038. Citation on PubMed Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol. 2011 ...
- ... 37657. Epub 2016 Apr 25. Citation on PubMed Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet. 2013 Jan 26;381(9863):333-42. ... Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto ... clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
- ... Lozado R, Shah G, Fananapazir L, Bachinski LL, Roberts R. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med. 2001 Jun 14;344( ...
- ... Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. ...
- ... on PubMed Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008 May;82(5): ...
- ... 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- ...
- ... Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ. Fraser syndrome and mouse blebbed phenotype caused by mutations in ...