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Human Mutation|February 22, 2002
Mutations in the RUNX2 gene in patients with cleidocranial dysplasiaFlorian Otto, Hirokazu Kanegane, Stefan MundlosHuman Mutation|February 22, 2002
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian familiesMarie McCluskey, Tina Schiavello, Michael Hunter, et al.Human Mutation|February 22, 2002
Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patientsSusan Kupka, Tímea Tóth, Maciej Wróbel, et al.Human Mutation|February 22, 2002
Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathyGiovanni Cuda, Andrea Mussari, Daniela Concolino, et al.Human Mutation|February 22, 2002
Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyriaAnita Gregor, Xiaoye Schneider-Yin, Urszula Szlendak, et al.Human Mutation|November 26, 1998
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndromeA Sillén, I Anton-Lamprecht, C Braun-Quentin, et al.Human Mutation|November 26, 1998
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastomaS Olschwang, S Richard, C Boisson, et al.Human Mutation|February 2, 2006
DLG5 variants contribute to Crohn disease risk in a Canadian populationWilliam G Newman, Xiangjun Gu, Richard F Wintle, et al.Human Mutation|February 14, 2006
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type IT Jaijo, E Aller, S Oltra, et al.Human Mutation|February 14, 2006
Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndromeJarmo Jääskeläinen, Nigel P Mongan, Sharon Harland, et al.Pageof 583