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- ... and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998 Apr 28;77(1):31-7. ... CA. Ehlers-Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet. 2017 Mar;175( ...
- ... Epiphyseal dysplasia, multiple, 5 Epiphyseal dysplasia, Ribbing type MED Multiple epiphyseal dysplasia, autosomal dominant Multiple epiphyseal dysplasia, ...
- ... findings from a nationwide epidemiological survey. Am J Med Genet A. 2012 May;158A(5):1083-94. ... and behavioral characteristics in Costello syndrome. Am J Med Genet A. 2009 Dec;149A(12):2666-72. ...
- ... management issues in Mowat-Wilson syndrome. Am J Med Genet A. 2006 Dec 15;140(24):2730- ... behavioral phenotype of Mowat-Wilson syndrome. Am J Med Genet A. 2012 Feb;158A(2):358-66. ...
- ... cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):129-35. ... features of 38 individuals with proven mutations. J Med Genet. 2008 Apr;45(4):249-54. doi: ...
- ... of holoprosencephaly: Prevalence and risk factors. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):13-21. ... evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med Genet. 2010 Feb 15; ...
- ... in the Xq12-q21.31 region. Am J Med Genet. 1997 Nov 28;73(1):87-90. ... X)(q12q28)] in familial FG syndrome. Am J Med Genet. 1999 Sep 10;86(2):112-4. ... phenotype and an algorithm for diagnostic testing. Genet Med. 2009 Nov;11(11):769-75. doi: 10. ...
- ... syndrome and Pitt-Rogers-Danks syndrome. Am J Med Genet. 1998 Feb 17;75(5):541. doi: ... and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet. 2008 Nov 15; ...
- ... and R75Q in the GJB2 gene. Am J Med Genet A. 2010 Jul;152A(7):1798-802. ... and causes focal palmoplantar keratoderma with deafness. J Med Genet. 2008 Mar;45(3):161-6. doi: ...
- ... complex genetics of colorectal cancer susceptibility. Am J Med Genet C Semin Med Genet. 2004 Aug 15;129C(1):35-43. ... complexity of the intestinal polyposis syndromes. Am J Med Genet A. 2013 Nov;161A(11):2777-87. ...