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Journal of Human Genetics|January 27, 2012
No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activityBenedetta Izzi, Francis de Zegher, Inge Francois, et al.Journal of Human Genetics|January 27, 2012
Common variants of SLAMF1 and ITLN1 on 1q21 are associated with type 2 diabetes in Indian populationRubina Tabassum, Anubha Mahajan, Om Prakash Dwivedi, et al.Journal of Human Genetics|March 2, 2012
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elementsPaola Fortugno, Fabiana Grosso, Giovanna Zambruno, et al.Journal of Human Genetics|March 2, 2012
Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patientsTheerawut Phusantisampan, Surasak Sangkhathat, Amornrat Phongdara, et al.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.Pageof 353