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American Journal of Medical Genetics. Part A|August 21, 2007
A microduplication of CBP in a patient with mental retardation and a congenital heart defectBernard Thienpont, Jeroen Breckpot, Maureen Holvoet, et al.American Journal of Medical Genetics. Part A|August 21, 2007
The origin of trisomy 22: evidence for acrocentric chromosome-specific patterns of nondisjunctionHeather E Hall, Urvashi Surti, Lori Hoffner, et al.American Journal of Medical Genetics. Part A|April 5, 2012
Prenatal ablation of nicotinic receptor alpha7 cell lineages produces lumbosacral spina bifida the severity of which is modified by choline and nicotine exposureScott W Rogers, Petr Tvrdik, Mario R Capecchi, et al.American Journal of Medical Genetics. Part A|April 11, 2012
Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial featuresHenry C Lin, Phuc Le Hoang, Anne Hutchinson, et al.American Journal of Medical Genetics. Part A|April 11, 2012
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 geneMarco Castori, Marco Ritelli, Nicoletta Zoppi, et al.American Journal of Medical Genetics. Part A|April 11, 2012
Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilationKevin M Kuppler, Daniel J Kirse, James T Thompson, et al.American Journal of Medical Genetics. Part A|April 11, 2012
COL1A1 association and otosclerosis: a meta-analysisIsabelle Schrauwen, Ayda Khalfallah, Megan Ealy, et al.American Journal of Medical Genetics. Part A|April 11, 2012
Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?André Mégarbané, Nadine Hanna, Eliane Chouery, et al.American Journal of Medical Genetics. Part A|December 6, 2011
Spina bifida subtypes and sub-phenotypes by maternal race/ethnicity in the National Birth Defects Prevention StudyA J Agopian, Mark A Canfield, Richard S Olney, et al.American Journal of Medical Genetics. Part A|December 6, 2011
Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968-2005Jodi M Jackson, Krista S Crider, Sonja A Rasmussen, et al.Pageof 928