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Journal of Human Genetics|March 2, 2012
Association analysis of formyl peptide receptor 2 (FPR2) polymorphisms and aspirin exacerbated respiratory diseasesHee-Jeong Kim, Sung-Hwan Cho, Jong-Sook Park, et al.Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.Journal of Human Genetics|December 2, 2011
Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardationShozo Honda, Shigeko Satomura, Shin Hayashi, et al.Journal of Human Genetics|September 23, 2008
Association of the SLC45A2 gene with physiological human hair colour variationWojciech Branicki, Urszula Brudnik, Jolanta Draus-Barini, et al.Journal of Human Genetics|September 6, 2007
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studiesCarla Olivieri, Fabio Pagella, Lucia Semino, et al.Journal of Human Genetics|September 6, 2007
High-resolution SNP and haplotype maps of the human gamma-glutamyl carboxylase gene (GGCX) and association study between polymorphisms in GGCX and the warfarin maintenance dose requirement of the Japanese populationPei-Chieng Cha, Taisei Mushiroda, Atsushi Takahashi, et al.Journal of Human Genetics|July 25, 2008
New correction algorithms for multiple comparisons in case-control multilocus association studies based on haplotypes and diplotype configurationsKazuharu Misawa, Shoogo Fujii, Toshimasa Yamazaki, et al.Journal of Human Genetics|July 18, 2008
Structural characterization of mutant alpha-galactosidases causing Fabry diseaseKanako Sugawara, Kazuki Ohno, Seiji Saito, et al.Journal of Human Genetics|February 10, 2022
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese populationNana Sakakibara, Kandai Nozu, Tomohiko Yamamura, et al.Journal of Human Genetics|May 30, 2019
The utility of post-test newborn blood spot screening cards for epigenetic association analyses: association between HIF3A methylation and birth weight-for-gestational ageTay Zar Kyaw, Seiji Yamaguchi, Chihiro Imai, et al.Pageof 351