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Journal of Human Genetics|August 17, 2004
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationshipAnna Lupi, Antonio De Riso, Sara Della Torre, et al.Journal of Human Genetics|September 15, 2004
A novel susceptibility locus for moyamoya disease on chromosome 8q23Kaoru Sakurai, Yasue Horiuchi, Hidetoshi Ikeda, et al.Journal of Human Genetics|September 17, 2004
Inference from the relationships between linkage disequilibrium and allele frequency distributions of 240 candidate SNPs in 109 drug-related genes in four Asian populationsPei-Chieng Cha, Ryo Yamada, Akihiro Sekine, et al.Journal of Human Genetics|September 16, 2004
Genetic background of people in the Dominican Republic with or without obese type 2 diabetes revealed by mitochondrial DNA polymorphismAtsushi Tajima, Kazuyuki Hamaguchi, Hideo Terao, et al.Journal of Human Genetics|March 26, 2004
A1166C variant of angiotensin II type 1 receptor gene is associated with severe hypertension in pregnancy independently of T235 variant of angiotensinogen geneGen Kobashi, Akira Hata, Kaori Ohta, et al.Journal of Human Genetics|May 13, 2004
Amplification, up-regulation and over-expression of C3G (CRK SH3 domain-binding guanine nucleotide-releasing factor) in non-small cell lung cancersTomomi Hirata, Hisaki Nagai, Kiyoshi Koizumi, et al.Journal of Human Genetics|May 19, 2004
The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 geneKavita Bhalla, Hilary A Phillips, Joanna Crawford, et al.Journal of Human Genetics|May 19, 2004
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAMNobuhiko Okamoto, Rolando Del Maestro, Rebeca Valero, et al.Journal of Human Genetics|June 29, 2004
Apolipoprotein E polymorphism is associated with age of onset in schizophreniaOlli Kampman, Sami Anttila, Ari Illi, et al.Journal of Human Genetics|June 29, 2004
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysisYi-Ning Su, Chien-Nan Lee, Shu-Chin Chien, et al.Pageof 351