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American Journal of Human Genetics|March 14, 2017
Dynamic Role of trans Regulation of Gene Expression in Relation to Complex TraitsChen Yao, Roby Joehanes, Andrew D Johnson, et al.American Journal of Human Genetics|March 14, 2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental AnomaliesMingchu Xu, Yajing Angela Xie, Hana Abouzeid, et al.American Journal of Human Genetics|February 21, 2017
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical DysplasiaJae Seok Lim, Ramu Gopalappa, Se Hoon Kim, et al.American Journal of Human Genetics|January 1, 1988
Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiencyY Higashi, A Tanae, H Inoue, et al.American Journal of Human Genetics|April 1, 1988
An insertion within the factor IX gene: hemophilia BEl SalvadorS H Chen, C R Scott, J R Edson, et al.American Journal of Human Genetics|June 19, 1998
Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23C Garner, J Mitchell, T Hatzis, et al.American Journal of Human Genetics|June 19, 1998
Parental origin-dependent, male offspring-specific transmission-ratio distortion at loci on the human X chromosomeA K Naumova, M Leppert, D F Barker, et al.American Journal of Human Genetics|June 19, 1998
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyriaU B Rüfenacht, L Gouya, X Schneider-Yin, et al.American Journal of Human Genetics|June 19, 1998
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndromeR Vargas-Poussou, D Feldmann, M Vollmer, et al.American Journal of Human Genetics|June 19, 1998
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their familiesI D Krantz, R P Colliton, A Genin, et al.Pageof 979