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Journal of Human Genetics|April 18, 2009
Recent advance in our understanding of the molecular nature of chromosomal abnormalitiesHiroki Kurahashi, Hasbaira Bolor, Takema Kato, et al.Journal of Human Genetics|March 31, 2009
Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?Thanyachai Sura, Jakris Eu-Ahsunthornwattana, Supak Youngcharoen, et al.Journal of Human Genetics|October 24, 2009
Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese populationKikuko Hotta, Michihiro Nakamura, Takahiro Nakamura, et al.Journal of Human Genetics|February 13, 2010
A functional polymorphism (-603A --> G) in the tissue factor gene promoter is associated with adult-onset asthmaAkira Isada, Satoshi Konno, Nobuyuki Hizawa, et al.Journal of Human Genetics|December 24, 2005
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuolesByoung Joon Kim, Chang-Seok Ki, Jong-Won Kim, et al.Journal of Human Genetics|October 17, 2009
Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutationsYoshiko Aoyama, Isil Ozer, Mubeccel Demirkol, et al.Journal of Human Genetics|October 17, 2009
Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosisIlse A Hoppenbrouwers, Yurii S Aulchenko, A Cecile Janssens, et al.Journal of Human Genetics|September 9, 2016
Identification of novel susceptibility markers for the risk of overall breast cancer as well as subtypes defined by hormone receptor status in the Chinese populationZhiping Deng, Hua Yang, Qiufang Liu, et al.Journal of Human Genetics|September 9, 2016
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxaMohammed Al-Bughaili, Teresa M Neuhann, Ricarda Flöttmann, et al.Journal of Human Genetics|June 23, 2017
Siblings with optic neuropathy and RTN4IP1 mutationNobuhiko Okamoto, Fuyuki Miya, Yoshikazu Hatsukawa, et al.Pageof 351