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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.Human Mutation|May 10, 2005
ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasiaGeoff W Birrell, Katherine Kneebone, Michael Nefedov, et al.Human Mutation|May 10, 2005
On ubiquitin ligases and cancerJacques S Beckmann, Fabienne Maurer, Mauro Delorenzi, et al.Human Mutation|June 16, 2005
Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidneyR Wieser, B Fritz, R Ullmann, et al.Human Mutation|June 16, 2005
Assessment of multiple displacement amplification for polymorphism discovery and haplotype determination at a highly polymorphic locus, MC1RKenton K Murthy, Vafa S Mahboubi, Alicia Santiago, et al.Human Mutation|June 28, 2005
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7ALisbeth Birk Møller, Jens Thostrup Bukrinsky, Anne Mølgaard, et al.Human Mutation|August 24, 2005
Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primatesHidehito Inagaki, Tamae Ohye, Hiroshi Kogo, et al.Human Mutation|August 30, 2005
Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expressionP Albrecht, B Ansperger-Rescher, A Schüler, et al.Human Mutation|October 4, 2005
Statistical geometry approach to the study of functional effects of human nonsynonymous SNPsMaxim Barenboim, D Curtis Jamison, Iosif I VaismanPageof 582