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Journal of Human Genetics|July 11, 2014
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapyRosário Santos, Ana Gonçalves, Jorge Oliveira, et al.Journal of Human Genetics|July 11, 2014
Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophyNagasamy Soumittra, Sampath K Loganathan, Dharanija Madhavan, et al.Journal of Human Genetics|September 5, 2014
GST Theta null genotype is associated with an increased risk for ulcerative colitis: a case-control study and meta-analysis of GST Mu and GST Theta polymorphisms in inflammatory bowel diseaseMark M T J Broekman, Caro Bos, René H M Te Morsche, et al.Journal of Human Genetics|September 5, 2014
Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotypeJorge M Nieto, Ana Villegas, Felix De La Fuente-Gonzalo, et al.Journal of Human Genetics|April 29, 2016
Claudin-7 indirectly regulates the integrin/FAK signaling pathway in human colon cancer tissueLei Ding, Liyong Wang, Leiming Sui, et al.Journal of Human Genetics|April 29, 2016
Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?Shinichiro Sano, Keiko Matsubara, Keisuke Nagasaki, et al.Journal of Human Genetics|July 1, 2016
HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive familiesAtsuko Imai, Masakazu Kohda, Akihiro Nakaya, et al.Journal of Human Genetics|July 1, 2016
A replication study of a candidate locus for follicle-stimulating hormone levels and association analysis for semen quality traits in Japanese menYouichi Sato, Atsushi Tajima, Motoki Katsurayama, et al.Journal of Human Genetics|July 1, 2016
Aberrantly expressed microRNAs in bladder cancer and renal cell carcinomaAkira Kurozumi, Yusuke Goto, Atsushi Okato, et al.Journal of Human Genetics|June 17, 2016
Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactylyYing Xiang, Zhigang Wang, Jingxia Bian, et al.Pageof 351