Showing results (1391-1400 of 3,522) with videos related to
Sort By:
Pageof 353
Journal of Human Genetics|October 26, 2005
Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasiaCinzia Puppin, Lucia Pellizzari, Dora Fabbro, et al.Journal of Human Genetics|October 26, 2005
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analysesEisaburo Ichikawa, Akira Watanabe, Yoko Nakano, et al.Journal of Human Genetics|October 13, 2005
Association of mannose-binding lectin gene (MBL2) polymorphisms with rheumatoid arthritis in an Indian cohort of case-control samplesBhawna Gupta, Charu Agrawal, Sunil K Raghav, et al.Journal of Human Genetics|October 11, 2005
Haplotype analysis of NAD(P)H oxidase p22 phox polymorphisms in end-stage renal diseaseKent Doi, Eisei Noiri, Akihide Nakao, et al.Journal of Human Genetics|April 13, 2002
Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteinsHidenori Ozaki, Yoko Watanabe, Keiko Ikeda, et al.Journal of Human Genetics|January 30, 2010
A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndromeHoi-Fong Chan, Meng-Ling Chen, Jen-Jen Su, et al.Journal of Human Genetics|January 30, 2010
Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from AustriaAndreas R Janecke, Joan E Willett-Brozick, Christoph Karas, et al.Journal of Human Genetics|November 7, 2009
Is CFTR 621+3 A>G a cystic fibrosis causing mutation?Monica Forzan, Leonardo Salviati, Vanessa Pertegato, et al.Journal of Human Genetics|September 26, 2018
Biallelic mutations in FDXR cause neurodegeneration associated with inflammationJesse Slone, Yanyan Peng, Adam Chamberlin, et al.Journal of Human Genetics|April 28, 2019
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palateKoji Kato, Fuyuki Miya, Ikumi Hori, et al.Pageof 353