Showing results (601-610 of 6,484) with videos related to
Sort By:
Pageof 649
Journal of Medical Genetics|January 1, 1988
Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from TurkeyG Oğur, M YükselJournal of Medical Genetics|March 24, 2017
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndromePolina Stepensky, Montserrat Chacón-Flores, Katherine H Kim, et al.Journal of Medical Genetics|March 29, 2017
Comprehensive somatic genome alterations of urachal carcinomaSeungchul Lee, Jingu Lee, Sung Hoon Sim, et al.Journal of Medical Genetics|April 10, 2017
Confirmation of mutations in PROSC as a novel cause of vitamin B -dependent epilepsyBarbara Plecko, Markus Zweier, Anaïs Begemann, et al.Journal of Medical Genetics|April 15, 2017
LMNA-associated partial lipodystrophy: anticipation of metabolic complicationsIsabelle Jeru, Camille Vatier, Marie-Christine Vantyghem, et al.Journal of Medical Genetics|March 28, 2014
Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hairYuval Ramot, Vered Molho-Pessach, Tomer Meir, et al.Journal of Medical Genetics|April 12, 2014
A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groupsDouglas Londono, Ikuyo Kou, Todd A Johnson, et al.Journal of Medical Genetics|April 12, 2014
A familial disorder of altered DNA-methylationAlmuth Caliebe, Julia Richter, Ole Ammerpohl, et al.Journal of Medical Genetics|April 17, 2014
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular colobomaMuhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, et al.Pageof 649