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Human Mutation|March 24, 2009
Planning the human variome project: the Spain reportJim Kaput, Richard G H Cotton, Lauren Hardman, et al.Human Mutation|March 25, 2009
Genetic and epigenetic analysis of recurrent hydatidiform moleBruce E Hayward, Michel De Vos, Nargese Talati, et al.Human Mutation|March 5, 2009
Clinical genetics & human genome variation: the 2008 Human Genome Variation Society scientific meetingWilliam S OettingHuman Mutation|March 6, 2009
Partial deletion of the MAPT gene: a novel mechanism of FTDP-17Anne Rovelet-Lecrux, Magalie Lecourtois, Catherine Thomas-Anterion, et al.Human Mutation|December 13, 2006
Sub-populations within the major European and African derived haplogroups R1b3 and E3a are differentiated by previously phylogenetically undefined Y-SNPsLynn M Sims, Dennis Garvey, Jack BallantyneHuman Mutation|December 13, 2006
Microsatellite in the 3' untranslated region of human fibroblast growth factor 9 (FGF9) gene exhibits pleiotropic effect on modulating FGF9 protein expressionTsung-Ming Chen, Pao-Lin Kuo, Chien-Hui Hsu, et al.Human Mutation|December 13, 2006
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrumRoberta Marongiu, Francesco Brancati, Angelo Antonini, et al.Human Mutation|June 21, 2007
Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutationsJinhua Qian, Catherine Deveault, Rashmi Bagga, et al.Human Mutation|June 21, 2007
A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start siteKathryn P Burdon, Shiwani Sharma, Celia S Chen, et al.Human Mutation|June 23, 2007
p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindnessViktoria Szabo, Hans-Jürgen Kreienkamp, Thomas Rosenberg, et al.Pageof 583