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Human Mutation|October 20, 2011
Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor typesSiân Jones, Meng Li, D Williams Parsons, et al.Human Mutation|February 8, 2012
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegiaCristina Dias, Murat Sincan, Praveen F Cherukuri, et al.Human Mutation|January 26, 2012
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformationHuay L Tan, Elise Glen, Ana Töpf, et al.Human Mutation|January 14, 2012
Rare germline mutations in PALB2 and breast cancer risk: a population-based studyMarc Tischkowitz, Marinela Capanu, Nelly Sabbaghian, et al.Human Mutation|July 29, 2011
A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathwayAdrian Waite, Maria Cristina De Rosa, Andrea Brancaccio, et al.Human Mutation|August 19, 2011
The polymorphism and haplotypes of PIN1 gene are associated with the risk of lung cancer in Southern and Eastern Chinese populationsJiachun Lu, Lei Yang, Hongjun Zhao, et al.Human Mutation|November 12, 2010
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosaIsabel Barragán, Salud Borrego, Juan Ignacio Pieras, et al.Human Mutation|May 4, 2011
A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD)Tommy A Potti, Elizabeth M Petty, Marci M LesperanceHuman Mutation|April 27, 2011
Bioinformatics for human genetics: promises and challengesAnnika Lindblom, Peter N RobinsonHuman Mutation|April 27, 2011
Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in EuropeansMargus Putku, Katrin Kepp, Elin Org, et al.Pageof 583