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Human Mutation|April 15, 2014
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing lossHela Azaiez, Kevin T Booth, Fengxiao Bu, et al.Human Mutation|April 22, 2008
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity ratingMarian Kroos, Robert J Pomponio, Laura van Vliet, et al.Human Mutation|April 22, 2008
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndromeMay Tassabehji, Zhi Ming Fang, Emma N Hilton, et al.Human Mutation|April 5, 2014
Cantú syndrome resulting from activating mutation in the KCNJ8 genePaige E Cooper, Heiko Reutter, Joachim Woelfle, et al.Human Mutation|April 15, 2008
Mutations in the chromatin-associated protein ATRXRichard J Gibbons, Takahito Wada, Christopher A Fisher, et al.Human Mutation|April 17, 2008
Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosaMaría José Gamundi, Imma Hernan, Marta Muntanyola, et al.Human Mutation|April 17, 2008
RPS19 mutations in patients with Diamond-Blackfan anemiaMaria Francesca Campagnoli, Ugo Ramenghi, Marta Armiraglio, et al.Human Mutation|February 15, 2008
A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exonsC K Ridout, P Keighley, S Krywawych, et al.Human Mutation|May 6, 2008
A meta-analysis of nonsense mutations causing human genetic diseaseMatthew Mort, Dobril Ivanov, David N Cooper, et al.Human Mutation|April 17, 2008
Bottlenecks in molecular testing for rare genetic diseasesPatrick J WillemsPageof 578