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Human Mutation|April 21, 2005
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutationsClarice Patrono, Valentina Scarano, Federica Cricchi, et al.Human Mutation|July 13, 2005
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathiesKarine Nguyen, Guillaume Bassez, Rafaëlle Bernard, et al.Human Mutation|June 3, 2005
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosisKatja U Schneider, Antonio Marchini, Nitin Sabherwal, et al.Human Mutation|June 15, 2005
Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndromeMato Nagel, Sylvia Nagorka, Oliver GrossHuman Mutation|May 17, 2005
TNF polymorphisms in Alzheimer disease and functional implications on CSF beta-amyloid levelsSimon M Laws, Robert Perneczky, Stefan Wagenpfeil, et al.Human Mutation|June 3, 2005
InSNP: a tool for automated detection and visualization of SNPs and InDelsCarl Manaster, Weiyue Zheng, Markus Teuber, et al.Human Mutation|March 3, 2006
A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patientWei Du, Satoru Kumaki, Toru Uchiyama, et al.Human Mutation|March 3, 2006
dbRIP: a highly integrated database of retrotransposon insertion polymorphisms in humansJianxin Wang, Lei Song, Deepak Grover, et al.Human Mutation|May 10, 2005
Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defectsSylvie Bannwarth, Vincent Procaccio, Veronique Paquis-FlucklingerHuman Mutation|May 10, 2005
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasiaJohn F Bateman, Richard Wilson, Susanna Freddi, et al.Pageof 583