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Journal of Human Genetics|June 26, 2015
Novel compound heterozygous LIAS mutations cause glycine encephalopathyYoshinori Tsurusaki, Ryuta Tanaka, Shino Shimada, et al.Journal of Human Genetics|July 17, 2015
Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutationsChika Kadota, Takuro Arimura, Takeharu Hayashi, et al.Journal of Human Genetics|July 17, 2015
Germline mutations causing familial lung cancerKoichi Tomoshige, Keitaro Matsumoto, Tomoshi Tsuchiya, et al.Journal of Human Genetics|June 5, 2015
Admixture mapping of genetic variants for uterine fibroidsKui Zhang, Howard Wiener, Brahim AissaniJournal of Human Genetics|June 5, 2015
Awareness, attitudes and perspectives of direct-to-consumer genetic testing in Greece: a survey of potential consumersVasiliki Mavroidopoulou, Ellie Xera, Vasiliki MollakiJournal of Human Genetics|June 5, 2015
Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short statureMaki Fukami, Yasuhiro Naiki, Koji Muroya, et al.Journal of Human Genetics|June 12, 2015
Genetic analysis of common variants in the HDAC2 gene with schizophrenia susceptibility in Han ChineseGang Chen, Fanglin Guan, Huali Lin, et al.Journal of Human Genetics|February 8, 2018
A 1000 Arab genome project to study the Emirati populationMariam Al-Ali, Wael Osman, Guan K Tay, et al.Journal of Human Genetics|February 8, 2018
Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutationElena Martín-Hernández, María Elena Rodríguez-García, Chun-An Chen, et al.Journal of Human Genetics|January 17, 2018
A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndromeMidori Motokawa, Satoshi Watanabe, Akiko Nakatomi, et al.Pageof 351