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American Journal of Medical Genetics. Part A|June 15, 2011
Adults with congenital heart disease: patients' knowledge and concerns about inheritanceKlaartje van Engelen, Marieke J H Baars, Lotte T van Rongen, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteriaGiuseppe Marangi, Stefania Ricciardi, Daniela Orteschi, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Trisomy 18: experience of a reference hospital from the south of BrazilRafael F M Rosa, Rosana C M Rosa, Marina B Lorenzen, et al.
American Journal of Medical Genetics. Part A|November 26, 2010
IMAGe syndrome: Case report with a previously unreported feature and review of published literatureMeena Balasubramanian, Alan Sprigg, Diana S Johnson
American Journal of Medical Genetics. Part A|January 29, 2011
Arthrogryposis, perthes disease, and upward gaze palsy: a novel autosomal recessive syndromic form of arthrogryposisFowzan S Alkuraya
American Journal of Medical Genetics. Part A|January 29, 2011
Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patientsMaria Francesca Bedeschi, Vera Bianchi, Anna Maria Colli, et al.
American Journal of Medical Genetics. Part A|January 29, 2011
47, XY, +der(Y),t(X;Y)(p21.1;p11.2): a unique case of XY sex reversalYuri A Zarate, Alka Dwivedi, Frank O Bartel, et al.
American Journal of Medical Genetics. Part A|February 22, 2011
Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardiumPeter Kannu, David Perry, Martin Rees, et al.
American Journal of Medical Genetics. Part A|February 22, 2011
Hajdu-Cheney syndrome with severe dural ectasiaKristiina Avela, Leena Valanne, Ilkka Helenius, et al.
American Journal of Medical Genetics. Part A|February 22, 2011
Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndromeMichiel van den Brand, Uta E Flucke, Peter Bult, et al.
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