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American Journal of Medical Genetics. Part A|October 4, 2011
Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deteriorationIchiro Kuki, Hisashi Kawawaki, Shin Okazaki, et al.American Journal of Medical Genetics. Part A|October 4, 2011
Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomesCatherine Sarri, Sofia Douzgou, Yolanda Gyftodimou, et al.American Journal of Medical Genetics. Part A|October 4, 2011
Correlation of intercentromeric distance, mosaicism, and sexual phenotype: molecular localization of breakpoints in isodicentric Y chromosomesMélanie Beaulieu Bergeron, Pierre Brochu, Emmanuelle Lemyre, et al.American Journal of Medical Genetics. Part A|October 4, 2011
Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAPI M Ben Amor, F Rauch, K Gruenwald, et al.American Journal of Medical Genetics. Part A|October 4, 2011
Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsyEdith Said, Doriette Soler, Caroline SewryAmerican Journal of Medical Genetics. Part A|October 4, 2011
Transmitted deletions of medial 5p and learning difficulties; does the cadherin cluster only become penetrant when flanking genes are deleted?John C K Barber, Shuwen Huang, Mark S Bateman, et al.American Journal of Medical Genetics. Part A|October 4, 2011
Craniofacial morphology in patients with hypophosphatemic rickets: a cephalometric study focusing on differences between bone of cartilaginous and intramembranous originHans Gjørup, Inger Kjaer, Liselotte Sonnesen, et al.American Journal of Medical Genetics. Part A|October 4, 2011
Immunodeficiency in Vici syndrome: a heterogeneous phenotypeAndrea Finocchi, Giulia Angelino, Nicoletta Cantarutti, et al.American Journal of Medical Genetics. Part A|September 28, 2011
Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletionDaniel Rocha Carvalho, Savana Camilla Lima Santos, Maria Dulce Valverde Oliveira, et al.American Journal of Medical Genetics. Part A|October 21, 2011
Biological and epidemiological evidence of interaction of infant genotypes at Rs7205289 and maternal passive smoking in cleft palateLing Li, Gui-Quan Zhu, Tian Meng, et al.Pageof 928