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Human Mutation|June 29, 2010
First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin functionElke Piters, Cavit Culha, Martiene Moester, et al.Human Mutation|June 29, 2010
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhoodCaroline Michot, Laurence Hubert, Michèle Brivet, et al.Human Mutation|July 22, 2010
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasiaClaus E Ott, Gundula Leschik, Fabienne Trotier, et al.Human Mutation|July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutationsJennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.Human Mutation|October 30, 2010
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2Jochen Reiss, Rita HahnewaldHuman Mutation|October 30, 2010
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorderMerel S Ebberink, Petra A W Mooijer, Jeannette Gootjes, et al.Human Mutation|October 30, 2010
A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese familyBinbin Wang, Changhong Yu, Yi-Bo Xi, et al.Human Mutation|February 10, 2011
Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitationsKim De Leeneer, Jan Hellemans, Joachim De Schrijver, et al.Human Mutation|February 10, 2011
Initiating a Human Variome Project Country NodeJumana AlAama, Timothy D Smith, Alan Lo, et al.Human Mutation|February 10, 2011
Systematic biochemical analysis of somatic missense mutations in DNA polymerase β found in prostate cancer reveal alteration of enzymatic functionChang Long An, Desheng Chen, Nick M MakridakisPageof 583