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Journal of Human Genetics|June 3, 2020
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophyTakuya Hiraide, Mitsuko Nakashima, Takahiro Ikeda, et al.Journal of Human Genetics|June 27, 2003
A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancerPhilippe Rostagno, Jeanine Gioanni, Eliane Garino, et al.Journal of Human Genetics|July 10, 2003
Effect of the factor VII R353Q missense mutation on plasma apolipoprotein B levels: impact of visceral obesityMarie-Thérèse Berthier, Alain Houde, Jean Bergeron, et al.Journal of Human Genetics|July 14, 2001
Gene fusion involving HMGIC is a frequent aberration in uterine leiomyomasN Mine, K Kurose, H Nagai, et al.Journal of Human Genetics|July 14, 2001
The genomic structure and expression of MJD, the Machado-Joseph disease geneY Ichikawa, J Goto, M Hattori, et al.Journal of Human Genetics|July 14, 2001
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type IaY Ishikawa, T Tajima, J Nakae, et al.Journal of Human Genetics|June 8, 2001
Seventy genetic variations in human microsomal and soluble epoxide hydrolase genes (EPHX1 and EPHX2) in the Japanese populationS Saito, A Iida, A Sekine, et al.Journal of Human Genetics|February 1, 2003
A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiencyRoel J P Smeets, Jan A M Smeitink, Ben A Semmekrot, et al.Journal of Human Genetics|February 1, 2003
The interleukin 6-174G/C polymorphism is associated with indices of obesity in menMarie-Thérèse Berthier, Ann-Marie Paradis, André Tchernof, et al.Journal of Human Genetics|February 1, 2003
DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiencyHenian Cao, Robert A HegelePageof 352