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American Journal of Medical Genetics. Part A|March 29, 2005
Functional disomy of Xp: prenatal findings and postnatal outcomeE Kolomietz, K Godbole, E J T Winsor, et al.American Journal of Medical Genetics. Part A|April 7, 2005
SOX2 anophthalmia syndromeNicola K Ragge, Birgit Lorenz, Adele Schneider, et al.American Journal of Medical Genetics. Part A|April 12, 2005
Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotypeYolande van Bever, Liesbeth Rooms, Annick Laridon, et al.American Journal of Medical Genetics. Part A|April 16, 2005
Autopsy findings of a 37-year-old man with a complex mosaic karyotype involving del(18p), monosomy 13, and trisomy 20Marc K Halushka, Gail Stetten, Joseph L McMichael, et al.American Journal of Medical Genetics. Part A|November 20, 2004
Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14)Emily Chen, Michele A Choe, William D Loughman, et al.American Journal of Medical Genetics. Part A|December 4, 2004
Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasiaEugenio Bonioli, Raoul C Hennekam, Gianantonio Spena, et al.American Journal of Medical Genetics. Part A|December 4, 2004
Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndromeWolfram Heinritz, Dieter Kotzot, Stefan Heinze, et al.American Journal of Medical Genetics. Part A|March 3, 2005
Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentationMiguel Carballo, Ignasi Roig, Francesc Aguilar, et al.American Journal of Medical Genetics. Part A|May 3, 2006
De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformationS Cappellacci, S Martinelli, R Rinaldi, et al.American Journal of Medical Genetics. Part A|April 28, 2006
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasiaKoichi Maeda, Yoshinari Miyamoto, Hideaki Sawai, et al.Pageof 928