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Human Mutation|January 1, 1996
Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndromeJ H Asher, A Sommer, R Morell, et al.Human Mutation|January 1, 1996
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth diseaseB B Roa, L E Warner, C A Garcia, et al.Human Mutation|January 1, 1996
Molecular genetics of human antithrombin deficiencyD J Perry, R W CarrellHuman Mutation|September 2, 2025
Optical Genomic Mapping and Next-Generation Sequencing Identified Retrotransposon Insertion and Missense Variant Disrupting PARN Gene in Dyskeratosis CongenitaQiaoyu Cao, Anqi Zhao, Zhoukai Long, et al.Human Mutation|September 18, 2009
Exon skipping-mediated dystrophin reading frame restoration for small mutationsPietro Spitali, Paola Rimessi, Marina Fabris, et al.Human Mutation|September 18, 2009
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)Eva Richard, Ana Jorge-Finnigan, Judit Garcia-Villoria, et al.Human Mutation|September 18, 2009
ssSNPTarget: genome-wide splice-site Single Nucleotide Polymorphism databaseJin Ok Yang, Woo-Yeon Kim, Jong BhakHuman Mutation|September 11, 2008
TCF4 deletions in Pitt-Hopkins SyndromeIrina Giurgea, Chantal Missirian, Pierre Cacciagli, et al.Human Mutation|September 11, 2008
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan AnemiaIlenia Boria, Paola Quarello, Federica Avondo, et al.Human Mutation|September 11, 2008
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and colobomaAlexander Wyatt, Preeti Bakrania, David J Bunyan, et al.Pageof 583