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Journal of Human Genetics|May 20, 2016
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutationHaipo Yang, Hiroshi Manya, Kazuhiro Kobayashi, et al.Journal of Human Genetics|May 27, 2016
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinismDaisuke Miyamichi, Miki Asahina, Junya Nakajima, et al.Journal of Human Genetics|April 29, 2016
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuriaLuis Aldámiz-Echevarría, Marta Llarena, María A Bueno, et al.Journal of Human Genetics|December 8, 2017
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohortQi Zeng, Xiaoling Yang, Jing Zhang, et al.Journal of Human Genetics|December 8, 2017
Cancer induction and suppression with transcriptional control and epigenome editing technologiesShota Nakade, Takashi Yamamoto, Tetsushi SakumaJournal of Human Genetics|December 8, 2017
Two large deletions extending beyond either end of the RHD gene and their red cell phenotypesKshitij Srivastava, David Alan Stiles, Franz Friedrich Wagner, et al.Journal of Human Genetics|December 8, 2017
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesisAnju Shukla, Aneek Das Bhowmik, Malavika Hebbar, et al.Journal of Human Genetics|December 8, 2017
Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhinyAsmat Ullah, Muhammad Umair, Umm E-Kalsoom, et al.Journal of Human Genetics|December 21, 2017
Genotypic variability-based genome-wide association study identifies non-additive loci HLA-C and IL12B for psoriasisWen-Hua Wei, Jonathan Massey, Jane Worthington, et al.Journal of Human Genetics|September 8, 2017
Effect of GnRHR polymorphisms on in vitro fertilization and embryo transfer in patients with polycystic ovary syndromeWei-Yan Chen, Yan-Qiu Du, Xia Guan, et al.Pageof 351