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Human Mutation|October 17, 2006
Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2Mark M Awad, Darshan Dalal, Crystal Tichnell, et al.Human Mutation|October 17, 2006
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophyChristophe Béroud, Sylvie Tuffery-Giraud, Masafumi Matsuo, et al.Human Mutation|August 24, 2006
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndromeMorgane Stum, Claire-Sophie Davoine, Savine Vicart, et al.Human Mutation|August 31, 2006
Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous familiesIan M Carr, Kimberley J Flintoff, Graham R Taylor, et al.Human Mutation|August 31, 2006
PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probandsSara Benito-Sanz, Darya Gorbenko del Blanco, Miriam Aza-Carmona, et al.Human Mutation|August 31, 2006
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafnessJuan R González, Wenyi Wang, Ester Ballana, et al.Human Mutation|November 23, 2006
Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopiaMarja Majava, Paul N Bishop, Pasi Hägg, et al.Human Mutation|June 15, 2005
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)John S Waye, Patrycja A Krakowiak, Christopher A Wassif, et al.Human Mutation|June 15, 2005
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosisStefan J White, Shirley Uitte de Willige, Dennis Verbove, et al.Human Mutation|June 22, 2005
A rapid microarray based whole genome analysis for detection of uniparental disomyOzge Altug-Teber, Andreas Dufke, Sven Poths, et al.Pageof 575