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Human Mutation|October 17, 2006
Deficient membrane integration of the novel p.N14D-GJB2 mutant associated with non-syndromic hearing impairmentB Haack, K Schmalisch, M Palmada, et al.
Human Mutation|October 17, 2006
Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplificationJinxiu Shi, Qiang Liu, Steve S Sommer
Human Mutation|October 17, 2006
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD geneNathalie Deburgrave, Fatma Daoud, Stéphane Llense, et al.
Human Mutation|June 6, 2006
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduriaH Bikker, H D Bakker, N G G M Abeling, et al.
Human Mutation|September 15, 2006
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia ANadja Bogdanova, Arseni Markoff, Roswith Eisert, et al.
Human Mutation|August 19, 2006
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathyVilma-Lotta Lehtokari, Katarina Pelin, Maria Sandbacka, et al.
Human Mutation|August 19, 2006
CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH geneB C Murphy, C R Scriver, S M Singh
Human Mutation|August 19, 2006
Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onset Parkinson diseaseYonghong Li, Steven Schrodi, Charles Rowland, et al.
Human Mutation|July 11, 2006
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing lossLut Van Laer, Per-Inge Carlsson, Natacha Ottschytsch, et al.
Human Mutation|June 10, 2020
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNCHeike Kölbel, Andreas Roos, Peter F M van der Ven, et al.
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