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American Journal of Human Genetics|October 10, 2007
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophyChristina F Chakarova, Myrto G Papaioannou, Hemant Khanna, et al.American Journal of Human Genetics|September 27, 2008
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhoodAvraham Zeharia, Avraham Shaag, Riekelt H Houtkooper, et al.American Journal of Human Genetics|September 27, 2008
Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studiesYumi Yamaguchi-Kabata, Kazuyuki Nakazono, Atsushi Takahashi, et al.American Journal of Human Genetics|August 12, 2008
Methods for detecting associations with rare variants for common diseases: application to analysis of sequence dataBingshan Li, Suzanne M LealAmerican Journal of Human Genetics|August 5, 2008
WW-domain-containing oxidoreductase is associated with low plasma HDL-C levelsJenny C Lee, Daphna Weissglas-Volkov, Mira Kyttälä, et al.American Journal of Human Genetics|September 1, 1991
Isolation of a human DNA sequence which spans the fragile XE J Kremer, S Yu, M Pritchard, et al.American Journal of Human Genetics|September 1, 1991
Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the geneK Kainulainen, B Steinmann, F Collins, et al.American Journal of Human Genetics|September 1, 1991
Complex segregation analysis of nonsyndromic cleft lip and palateJ T Hecht, P Yang, V V Michels, et al.American Journal of Human Genetics|September 6, 2008
Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunctionSami Ellouze, Sébastien Augustin, Aicha Bouaita, et al.American Journal of Human Genetics|July 4, 2008
Genotype-specific recurrence risks as indicators of the genetic architecture of complex diseasesMontgomery SlatkinPageof 979