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Abnormal neuronal migration defect in the severe variant subtype of Adams–Oliver syndrome JOURNAL ARTICLE published 15 June 2008 in American Journal of Medical Genetics Part A |
Constitutional H19 hypermethylation in a patient with isolated cardiac tumor JOURNAL ARTICLE published 15 August 2008 in American Journal of Medical Genetics Part A |
JOURNAL ISSUE published April 2008 in American Journal of Medical Genetics Part A |
Complete sex reversal in a WAGR syndrome patient JOURNAL ARTICLE published 15 November 2007 in American Journal of Medical Genetics Part A |
Erratum JOURNAL ARTICLE published 15 February 2008 in American Journal of Medical Genetics Part A |
Three additional cases of the Michels syndrome JOURNAL ARTICLE published 15 November 2007 in American Journal of Medical Genetics Part A |
Spondylocarpotarsal synostosis: Long‐term follow‐up of a case due to FLNB mutations JOURNAL ARTICLE published May 2008 in American Journal of Medical Genetics Part A |
Kidney abnormalities in persons with monosomy 15q26 JOURNAL ARTICLE published July 2008 in American Journal of Medical Genetics Part A |
Muscle hemorrhage in a paraplegic adult with neurofibromatosis type 1 and an associated vasculopathy JOURNAL ARTICLE published 15 September 2008 in American Journal of Medical Genetics Part A |
A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia JOURNAL ARTICLE published September 2008 in American Journal of Medical Genetics Part A |
A CDKL5 mutated child with precocious puberty JOURNAL ARTICLE published May 2009 in American Journal of Medical Genetics Part A |
JOURNAL ISSUE published 15 August 2008 in American Journal of Medical Genetics Part A |
JOURNAL ISSUE published 15 November 2007 in American Journal of Medical Genetics Part A |
In This Issue JOURNAL ARTICLE published October 2012 in American Journal of Medical Genetics Part A |
Rare interstitial deletion 9q31.2 to q33.1 de novo: Longitudinal study in a patient over a period of more than 20 years JOURNAL ARTICLE published May 2008 in American Journal of Medical Genetics Part A |
High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita JOURNAL ARTICLE published October 2008 in American Journal of Medical Genetics Part A |
Possible case of sirenomelia in the Tumaco‐Tolita pottery pre‐Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali‐Colombia JOURNAL ARTICLE published September 2011 in American Journal of Medical Genetics Part A |
2010 and 2011 American Journal of Medical Genetics Reviewer Listing JOURNAL ARTICLE published September 2012 in American Journal of Medical Genetics Part A |
Complex toe syndactyly with characteristic facial phenotype: A new syndrome? JOURNAL ARTICLE published July 2008 in American Journal of Medical Genetics Part A |
Gorlin–chaudhry–moss syndrome revisited: Expanding the phenotype JOURNAL ARTICLE published July 2013 in American Journal of Medical Genetics Part A |