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Human Mutation|February 16, 2005
Molecular characterization of Italian nevoid basal cell carcinoma syndrome patientsL Pastorino, R Cusano, S Nasti, et al.Human Mutation|February 16, 2005
Large genomic rearrangements in MECP2Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, et al.Human Mutation|November 25, 2003
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPAC F Taylor, R S Charlton, J Burn, et al.Human Mutation|November 25, 2003
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)Montserrat Rodríguez-Ballesteros, Francisco J del Castillo, Yolanda Martín, et al.Human Mutation|November 25, 2003
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency alleleMakiko Yasuda, Junaid Shabbeer, Stacy D Benson, et al.Human Mutation|November 25, 2003
Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS geneRuna Njålsson, Katarina Carlsson, Andreas Winkler, et al.Human Mutation|November 25, 2003
Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effectsEva Gross, Tobias Ullrich, Katharina Seck, et al.Human Mutation|August 10, 2004
The human FOXL2 mutation databaseDiane Beysen, Jo Vandesompele, Ludwine Messiaen, et al.Human Mutation|August 10, 2004
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapyG Yogalingam, X-H Guo, V J Muller, et al.Human Mutation|August 10, 2004
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesionsCatherine Gallou, Dominique Chauveau, Stéphane Richard, et al.Pageof 583