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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
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.
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