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Journal of Human Genetics|October 29, 2010
The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han populationTeng Zhao, Zhe Liu, Di Zhang, et al.Journal of Human Genetics|November 19, 2010
A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlationLukasz A Małek, Sarah Labib, Lukasz Mazurkiewicz, et al.Journal of Human Genetics|December 3, 2010
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brainYann Fichou, Juliette Nectoux, Nadia Bahi-Buisson, et al.Journal of Human Genetics|November 26, 2010
Cyclin D1 rare variants in UK multiple adenoma and early-onset colorectal cancer patientsCarolina Bonilla, Jérémie H Lefèvre, Bruce Winney, et al.Journal of Human Genetics|May 21, 2010
Making a haplotype catalog with estimated frequencies based on SNP homozygotesYumi Yamaguchi-Kabata, Tatsuhiko Tsunoda, Atsushi Takahashi, et al.Journal of Human Genetics|April 24, 2010
CCND2 polymorphisms associated with clearance of HBV infectionTae Joon Park, Ji-Yong Chun, Joon Seol Bae, et al.Journal of Human Genetics|April 24, 2010
Y-chromosome distributions among populations in Northwest China identify significant contribution from Central Asian pastoralists and lesser influence of western EurasiansWei-Hua Shou, En-Fa Qiao, Chuan-Yu Wei, et al.Journal of Human Genetics|May 8, 2010
Detection of inappropriate samples in association studies by an IBS-based method considering linkage disequilibrium between genetic markersMasataka Andoh, Yasunori Sato, Hiromi Sakamoto, et al.Journal of Human Genetics|May 1, 2010
Analysis of SCN1A mutation and parental origin in patients with Dravet syndromeHuihui Sun, Yuehua Zhang, Xiaoyan Liu, et al.Journal of Human Genetics|March 31, 2009
A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentationEsther van de Vosse, Annelies van Wengen, Jos A van Geelen, et al.Pageof 353