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Journal of Human Genetics|June 11, 2010
Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51Rosário Santos, Jorge Oliveira, Emília Vieira, et al.Journal of Human Genetics|June 18, 2010
A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarraysAhmet Yilmaz, Nancy Hamel, Charles E Schwartz, et al.Journal of Human Genetics|June 18, 2010
Establishment of a standardized system to perform population structure analyses with limited sample size or with different sets of SNP genotypesNatsuhiko Kumasaka, Yumi Yamaguchi-Kabata, Atsushi Takahashi, et al.Journal of Human Genetics|June 18, 2010
Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosaHaike Guo, Yongjie Qin, Qianli Meng, et al.Journal of Human Genetics|June 18, 2010
Combined effect of longevity-associated mitochondrial DNA 5178 C/A polymorphism and coffee consumption on the risk of hyper-LDL cholesterolemia in middle-aged Japanese menAkatsuki Kokaze, Mamoru Ishikawa, Naomi Matsunaga, et al.Journal of Human Genetics|May 2, 2009
Molecular cloning of t(2;7)(p24.3;p14.2), a novel chromosomal translocation in myelodysplastic syndrome-derived acute myeloid leukemiaKazuhiro Fujita, Masashi Sanada, Hiroshi Harada, et al.Journal of Human Genetics|May 28, 2010
The association of glutathione-S-transferase gene polymorphisms (GSTM1, GSTT1, GSTP1) with idiopathic male infertilityMohammad Reza Safarinejad, Nayyer Shafiei, Shiva SafarinejadJournal of Human Genetics|September 7, 2006
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndromeMilena Cau, Maria Addis, Rita Congiu, et al.Journal of Human Genetics|September 15, 2006
Prediction of systemic exposure to cyclosporine in Japanese pediatric patientsToshiyuki Sakaeda, Kazumoto Iijima, Kandai Nozu, et al.Journal of Human Genetics|September 2, 2006
Beta2-adrenergic receptor polymorphisms are associated with asthma and COPD in adultsMelanie C Matheson, Justine A Ellis, Joan Raven, et al.Pageof 352