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Results 1 - 10 of 1,447 for med
  1. Ehlers-Danlos syndrome 
    ... 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( ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  2. Multiple epiphyseal dysplasia 
    ... Epiphyseal dysplasia, multiple, 5 Epiphyseal dysplasia, Ribbing type MED Multiple epiphyseal dysplasia, autosomal dominant Multiple epiphyseal dysplasia, ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics
  3. COMP gene 
    ... epiphyseal dysplasia 1, multiple) COMP_HUMAN EDM1 EPD1 MED PSACH pseudoachondroplasia (epiphyseal dysplasia 1, multiple) THBS5 thrombospondin- ... between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. J Cell Biochem. 2008 Feb 15;103( ...
    https://medlineplus.gov/genetics/gene/comp - Genetics
  4. COL9A1 gene 
    ... type IX, alpha 1 DJ149L1.1.2 FLJ40263 MED Tests of COL9A1 PubMed COLLAGEN, TYPE IX, ALPHA- ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  5. SMAD4 gene 
    ... polyposis, aortopathy, and mitral valve dysfunction. Am J Med Genet A. 2011 May;155A(5):1165-9. ... 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007 Nov;44(11):702-9. doi: ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  6. Costello syndrome 
    ... 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. ...
    https://medlineplus.gov/genetics/condition/costello-syndrome - Genetics
  7. Mowat-Wilson syndrome 
    ... 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. ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  8. Cardiofaciocutaneous syndrome 
    ... 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: ...
    https://medlineplus.gov/.../condition/cardiofaciocutaneous-syndrome - Genetics
  9. Nonsyndromic holoprosencephaly 
    ... 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; ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics
  10. Chromosome 2 
    ... of minimum deletion intervals for key phenotypes. J Med Genet. 2004 Jun;41(6):433-9. doi: ... support for "ring chromosome 2 syndrome". Am J Med Genet A. 2005 Feb 1;132A(4):447- ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
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