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Human Mutation|March 10, 2007
A new variant database for mismatch repair genes associated with Lynch syndromeMichael O Woods, Phillip Williams, Amanda Careen, et al.Human Mutation|March 14, 2007
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locusE Bal, L Baala, C Cluzeau, et al.Human Mutation|June 19, 2007
Effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer diseaseXueying Liang, Eden R Martin, Nathalie Schnetz-Boutaud, et al.Human Mutation|June 21, 2007
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) regionWilly Lissens, Alessia Arena, Sara Seneca, et al.Human Mutation|June 8, 2007
Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutationCarmen Gherasim, David S Rosenblatt, Ruma BanerjeeHuman Mutation|June 15, 2007
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndromePascale Saugier-Veber, Céline Bonnet, Alexandra Afenjar, et al.Human Mutation|June 28, 2007
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genesJianghua Ou, Renée C Niessen, Anne Lützen, et al.Human Mutation|July 7, 2007
Sample selection algorithm to improve quality of genotyping from plasma-derived DNA: to separate the wheat from the chaffVeit Schoenborn, Henning Gohlke, Iris M Heid, et al.Human Mutation|May 10, 2007
A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memoryZhi-xiang Lu, Jia Peng, Bing SuHuman Mutation|September 4, 2009
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHDJessica C de Greef, Richard J L F Lemmers, Baziel G M van Engelen, et al.Pageof 583