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American Journal of Medical Genetics. Part A|November 19, 2010
Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardationKenichiro Yamada, Daisuke Fukushi, Takao Ono, et al.American Journal of Medical Genetics. Part A|January 5, 2011
Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndromeKate Baker, Gemma B Northam, W K Chong, et al.American Journal of Medical Genetics. Part A|January 5, 2011
Genotype-phenotype analysis of the branchio-oculo-facial syndromeJeff M Milunsky, Tom M Maher, Geping Zhao, et al.American Journal of Medical Genetics. Part A|January 5, 2011
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystoniaMireille Cossée, Laurence Faivre, Christophe Philippe, et al.American Journal of Medical Genetics. Part A|January 5, 2011
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6Toshiyuki Yamamoto, Keiko Shimojima, Tsutomu Nishizawa, et al.American Journal of Medical Genetics. Part A|January 5, 2011
Monosomy 21q22.11-q22.13 presenting as a Fanconi anemia phenotypeRobert S Byrd, Theodore Zwerdling, Billur Moghaddam, et al.American Journal of Medical Genetics. Part A|January 5, 2011
Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patientJun Tohyama, Mitsuhiro Kato, Sari Kawasaki, et al.American Journal of Medical Genetics. Part A|January 5, 2011
Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovaleTetsuya Kibe, Yuka Mori, Tohru Okanishi, et al.American Journal of Medical Genetics. Part A|May 17, 2011
Understanding physicians' attitudes toward people with Down syndromeJill E Pace, Mikyong Shin, Sonja A RasmussenAmerican Journal of Medical Genetics. Part A|June 26, 2010
A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosomeSimon T Holden, Amanda Clarkson, N Simon Thomas, et al.Pageof 928