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Human Mutation|February 27, 2010
Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidismCandice Hoste, Sabrina Rigutto, Guy Van Vliet, et al.Human Mutation|November 26, 2009
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohortKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.Human Mutation|June 14, 2017
MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease-causing mutations in human mitochondrial aminoacyl-tRNA synthetasesLuc Moulinier, Raymond Ripp, Gaston Castillo, et al.Human Mutation|April 16, 2018
Genotype-specific progression of hereditary medullary thyroid cancerAndreas Machens, Kerstin Lorenz, Frank Weber, et al.Human Mutation|April 12, 2018
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literatureMarie-Laure Vuillaume, Marie-Pierre Moizard, Sylvie Rossignol, et al.Human Mutation|December 19, 2009
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, K Michael Gibson, et al.Human Mutation|December 19, 2009
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1Mark Drost, Jos e B M Zonneveld, Linda van Dijk, et al.Human Mutation|January 16, 2010
Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer familiesSylvia De Brakeleer, Jacques De Grève, Remy Loris, et al.Human Mutation|January 7, 2010
Inferring the functional effects of mutation through clusters of mutations in homologous proteinsPeng Yue, William F Forrest, Joshua S Kaminker, et al.Pageof 583