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Human Mutation|July 23, 2009
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosisMarc Bitoun, Anne-Cécile Durieux, Bernard Prudhon, et al.
Human Mutation|July 21, 2009
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetranceThomas Rio Frio, Terri L McGee, Nicholas M Wade, et al.
Human Mutation|April 7, 2009
Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysisTú Nguyen-Dumont, Florence Le Calvez-Kelm, Nathalie Forey, et al.
Human Mutation|November 14, 2008
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same familyPascal Escher, Peter Gouras, Raphaël Roduit, et al.
Human Mutation|November 14, 2008
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) geneKatharina Engel, Wolfgang Höhne, Johannes Häberle
Human Mutation|February 19, 2009
Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech RepublicV Polakova, B Pardini, A Naccarati, et al.
Human Mutation|February 19, 2009
Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndromeEtienne Rouleau, Cédrick Lefol, Violaine Bourdon, et al.
Human Mutation|January 30, 2009
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduriaSebastián Menao, Eduardo López-Viñas, Cecilia Mir, et al.
Human Mutation|March 26, 2009
Functional properties of missense variants of human tryptophan hydroxylase 2Jeffrey A McKinney, Banu Turel, Ingeborg Winge, et al.
Human Mutation|February 12, 2009
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumAnna Sarkozy, Claudio Carta, Sonia Moretti, et al.
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