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Journal of Human Genetics|November 22, 2018
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general populationVíctor Faundes, Geraldine Malone, William G Newman, et al.Journal of Human Genetics|March 8, 2019
Previously undescribed thyroid-specific miRNA sequences in papillary thyroid carcinomaMateus Camargo Barros-Filho, Michelle Pewarchuk, Brenda de Carvalho Minatel, et al.Journal of Human Genetics|February 21, 2021
Characterization of early postzygotic somatic mutations through multi-organ analysisHyeonjin Lee, Eun Na Kim, Ji-Young Lee, et al.Journal of Human Genetics|March 17, 2017
Novel mutations of PDGFRB cause primary familial brain calcification in Chinese familiesChong Wang, Xiang-Ping Yao, Hai-Ting Chen, et al.Journal of Human Genetics|March 10, 2017
Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patientsKiyoshiro Nagamatsu, Yoshiki Sekijima, Katsuya Nakamura, et al.Journal of Human Genetics|August 21, 2019
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14Eungu Kang, Taeho Kim, Arum Oh, et al.Journal of Human Genetics|June 4, 1998
Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibriumM Saito, H Matsumine, H Tanaka, et al.Journal of Human Genetics|June 4, 1998
-6A promoter variant of angiotensinogen and blood pressure variation in Canadian Oji-CreeR A Hegele, S B Harris, A J Hanley, et al.Journal of Human Genetics|June 4, 1998
High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer familiesT Katagiri, F Kasumi, M Yoshimoto, et al.Journal of Human Genetics|June 4, 1998
A SacII polymorphism in the human ASCL2 (HASH2) gene regionT Miyamoto, Y Jinno, K Miura, et al.Pageof 351