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Nature Genetics|June 1, 1995
Rapid detection of BRCA1 mutations by the protein truncation testF B Hogervorst, R S Cornelis, M Bout, et al.Nature Genetics|June 1, 1995
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severityF Piccolo, S L Roberds, M Jeanpierre, et al.Nature Genetics|December 1, 1993
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes geneP C Bull, G R Thomas, J M Rommens, et al.Nature Genetics|December 1, 1993
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney diseaseD J Peters, L Spruit, J J Saris, et al.Nature Genetics|December 1, 1993
Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomesC Tyler-Smith, R J Oakey, Z Larin, et al.Nature Genetics|June 1, 1996
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searchingS Banfi, G Borsani, E Rossi, et al.Nature Genetics|June 1, 1996
Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouseK J Lei, H Chen, C J Pan, et al.Nature Genetics|June 1, 1996
Characterization of DRP2, a novel human dystrophin homologueR G Roberts, T C Freeman, E Kendall, et al.Nature Genetics|June 1, 1996
Sex reversal by loss of the C-terminal transactivation domain of human SOX9P Südbeck, M L Schmitz, P A Baeuerle, et al.Nature Genetics|June 1, 1996
Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasiaM C Naski, Q Wang, J Xu, et al.Pageof 744