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Journal of Medical Genetics|October 1, 1990
A de novo interstitial deletion of 15(q21.2q22.1) in a moderately retarded adult maleF Martin, J Platt, E J Tawn, et al.Journal of Medical Genetics|October 1, 1990
Monozygotic twins with trisomy 18: a report of discordant phenotypeJ S Schlessel, W T Brown, A Lysikiewicz, et al.Journal of Medical Genetics|April 14, 2012
Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repairJillian P Casey, Michael Nobbs, Paul McGettigan, et al.Journal of Medical Genetics|April 14, 2012
The Human Variome Project Beijing meetingTimothy D Smith, Helen M Robinson, Richard G H CottonJournal of Medical Genetics|December 20, 2011
Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohortsMark O Goodarzi, Michelle R Jones, Xiaohui Li, et al.Journal of Medical Genetics|April 12, 2012
Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic casesBeatriz Martinez-Delgado, Kira Yanowsky, Lucia Inglada-Perez, et al.Journal of Medical Genetics|July 7, 2011
The FOXE1 and NKX2-1 loci are associated with susceptibility to papillary thyroid carcinoma in the Japanese populationMichiko Matsuse, Meiko Takahashi, Norisato Mitsutake, et al.Journal of Medical Genetics|July 26, 2011
Association of a genetic variant of BTN2A1 with metabolic syndrome in East Asian populationsMitsutoshi Oguri, Kimihiko Kato, Tetsuro Yoshida, et al.Journal of Medical Genetics|June 29, 2011
Identification of quantitative trait loci for murine autoimmune pancreatitisFarahnaz Asghari, Brit Fitzner, Stephanie-Anna Holzhüter, et al.Journal of Medical Genetics|March 1, 1990
Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115M R Passos-Bueno, D Rapaport, D Love, et al.Pageof 649