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Journal of Medical Genetics|September 21, 2011
Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassificationDavid E Cervantes-Barragán, Camilo E Villarroel, Alma Medrano-Hernández, et al.Journal of Medical Genetics|June 1, 1990
Dystrophin expression and genotypic analysis of two cases of benign X linked myopathy (McLeod's syndrome)N D Carter, J E Morgan, A P Monaco, et al.Journal of Medical Genetics|June 3, 2011
A role for XRCC2 gene polymorphisms in breast cancer risk and survivalWei-Yu Lin, Nicola J Camp, Lisa A Cannon-Albright, et al.Journal of Medical Genetics|March 1, 1990
Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum?L A Brueton, S M Huson, B Farren, et al.Journal of Medical Genetics|March 19, 2011
Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencingYoshinori Tsurusaki, Hitoshi Osaka, Haruka Hamanoue, et al.Journal of Medical Genetics|May 1, 1990
A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigationsL Hasholt, S A Sørensen, A Wandall, et al.Journal of Medical Genetics|June 11, 2011
NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastageChristiane Messaed, Wafaa Chebaro, Raphael B Di Roberto, et al.Journal of Medical Genetics|May 28, 2011
Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disabilityClaire Beneteau, Emilie Landais, Martine Doco-Fenzy, et al.Journal of Medical Genetics|July 1, 1990
EL BUSCA and the value of signals in the diagnosis of dysmorphic syndromes: good and bad handles in computer assisted differential diagnosisL J Salgado, J S Lopez-Camelo, E E CastillaJournal of Medical Genetics|October 5, 2011
De novo copy number variants associated with intellectual disability have a paternal origin and age biasJayne Y Hehir-Kwa, Benjamín Rodríguez-Santiago, Lisenka E Vissers, et al.Pageof 649