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Human Mutation|August 10, 2004
Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)Hanno Bolz, Steffen-Sebastian Bolz, Götz Schade, et al.
Human Mutation|August 10, 2005
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contracturesAngela M Kaindl, Sibylle Jakubiczka, Thomas Lücke, et al.
Human Mutation|August 10, 2005
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromasElena Pedrini, Alessandro De Luca, Enza Maria Valente, et al.
Human Mutation|August 10, 2005
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel allelesAnna Lisa E Montalvo, Mirella Filocamo, Kristian Vlahovicek, et al.
Human Mutation|August 10, 2005
Marked decrease in specific activity contributes to disease phenotype in two human glucose 6-phosphate dehydrogenase mutants, G6PD(Union) and G6PD(Andalus)Xiao-Tao Wang, Veronica M S Lam, Paul C Engel
Human Mutation|June 28, 2005
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genesMinghui Qin, Hideyuki Hayashi, Kenji Oshima, et al.
Human Mutation|September 1, 2005
Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairmentRegie Lyn P Santos, Muhammad Wajid, Mohammad Nasim Khan, et al.
Human Mutation|September 1, 2005
Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genesLeonarda Ianzano, Junjun Zhang, Elayne M Chan, et al.
Human Mutation|September 1, 2005
A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposisPia Alhopuro, Antony R Parker, Rainer Lehtonen, et al.
Human Mutation|September 1, 2005
Thromboxane synthase (TBXAS1) polymorphisms in African-American and Caucasian populations: evidence for selective pressureCornelia M Ulrich, Christopher S Carlson, Justin Sibert, et al.
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