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Journal of Human Genetics|April 19, 2013
WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victimsLaura Kytövuori, Allan Seppänen, Mika H Martikainen, et al.Journal of Human Genetics|March 1, 2013
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failureRumiko Izumi, Tetsuya Niihori, Yoko Aoki, et al.Journal of Human Genetics|March 8, 2013
Functional characterization of seven single-nucleotide polymorphisms of the steroid sulfatase gene found in a Japanese populationJun Matsumoto, Noritaka Ariyoshi, Itsuko Ishii, et al.Journal of Human Genetics|February 8, 2013
Recapitulation of previous genome-wide association studies with two distinct pathophysiological entities of gastric cancer in the Korean populationJoo-Yeon Hwang, Duk-Hwan Kim, Yong-Ick Ji, et al.Journal of Human Genetics|February 1, 2013
Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermiaNyamkhishig Sambuughin, Xinyue Liu, Sunita Bijarnia, et al.Journal of Human Genetics|January 25, 2013
The Indonesian archipelago: an ancient genetic highway linking Asia and the PacificMeryanne K Tumonggor, Tatiana M Karafet, Brian Hallmark, et al.Journal of Human Genetics|December 11, 2012
Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28Thi Hoai Thu Tran, Zhujun Zhang, Mariko Yagi, et al.Journal of Human Genetics|November 30, 2012
Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutationsYoung Bae Sohn, Cha Gon Lee, Jung Min Ko, et al.Journal of Human Genetics|February 17, 2012
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VISeiji Saito, Kazuki Ohno, Masakazu Sekijima, et al.Pageof 351