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Journal of Human Genetics|November 18, 2011
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type IIIAmira Mili, Ilhem Ben Charfeddine, Ons Mamaï, et al.
Journal of Human Genetics|June 27, 2009
MTHFR polymorphisms, dietary folate intake and breast cancer risk in Chinese womenChang-Ming Gao, Jin-Hai Tang, Hai-Xia Cao, et al.
Journal of Human Genetics|May 23, 2009
Novel OTOF mutations in Brazilian patients with auditory neuropathyJihane Romanos, Lilian Kimura, Mariana Lopes Fávero, et al.
Journal of Human Genetics|February 21, 2009
Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3Muhammad Salman Chishti, Kwanghyuk Lee, Merry-Lynn McDonald, et al.
Journal of Human Genetics|February 21, 2009
Molecular population genetics of SLC4A1 and Southeast Asian ovalocytosisJason A Wilder, Jonathan A Stone, Elizabeth G Preston, et al.
Journal of Human Genetics|January 6, 2012
Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencingJa-Hyun Jang, Jeong Eon Lee, Min-Jung Kwon, et al.
Journal of Human Genetics|December 14, 2011
CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elementsIkhlass Hadj Salem, Ines Hsairi, Najla Mezghani, et al.
Journal of Human Genetics|December 14, 2011
Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility lociAnna Svenningsson, Cilla Söderhäll, Sofia Persson, et al.
Journal of Human Genetics|January 13, 2012
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populationsYen-Hui Chiu, Ying-Chen Chang, Yu-Hsin Chang, et al.
Journal of Human Genetics|January 27, 2012
Common genetic factors for hematological traits in humansYukinori Okada, Yoichiro Kamatani
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