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Human Mutation|April 27, 2004
Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP)Marie Luise Bisgaard, Rasmus S Ripa, Steffen Bülow
Human Mutation|April 27, 2004
Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosaRiza Köksal Ozgül, Hakan Durukan, Ayse Turan, et al.
Human Mutation|August 24, 2005
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosisKatja-Martina Eckl, Peter Krieg, Wolfgang Küster, et al.
Human Mutation|August 24, 2005
Whole genome SNP arrays using DNA derived from formalin-fixed, paraffin-embedded ovarian tumor tissueElla R Thompson, Shane C Herbert, Susan M Forrest, et al.
Human Mutation|August 20, 2005
Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversionsJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Human Mutation|September 8, 2005
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 geneRenata Bocciardi, Roberto Giorda, Valeria Marigo, et al.
Human Mutation|December 18, 2004
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigreeChristian G Meyer, Nagla M Gasmelseed, Adil Mergani, et al.
Human Mutation|December 18, 2004
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 geneFabienne Giuliano, Sylvie Bannwarth, Sophie Monnot, et al.
Human Mutation|March 19, 2005
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisisJulia Hoefele, Ralf Sudbrak, Richard Reinhardt, et al.
Human Mutation|March 19, 2005
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotypeJérôme Clain, Jacqueline Lehmann-Che, Ingrid Duguépéroux, et al.
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