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Human Mutation|January 16, 2007
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot regionElke M Botzenhart, Gabriella Bartalini, Edward Blair, et al.
Human Mutation|April 17, 2007
Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolismAse Fredriksen, Klaus Meyer, Per Magne Ueland, et al.
Human Mutation|May 8, 2007
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardationReinhard Ullmann, Gillian Turner, Maria Kirchhoff, et al.
Human Mutation|May 1, 2007
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromesCasey L Moulson, Loren G Fong, Jennifer M Gardner, et al.
Human Mutation|March 21, 2007
PKDB: Polycystic Kidney Disease Mutation Database--a gene variant database for autosomal dominant polycystic kidney diseaseAlexander M Gout, Neilson C Martin, Alastair F Brown, et al.
Human Mutation|May 18, 2007
Cancer-associated missplicing of exon 4 influences the subnuclear distribution of the DNA replication factor CIZ1Faisal Abdel Rahman, Justin F-X Ainscough, Nikki Copeland, et al.
Human Mutation|April 27, 2007
Mutational analysis of 105 mucopolysaccharidosis type VI patientsLitsa Karageorgos, Doug A Brooks, Anthony Pollard, et al.
Human Mutation|September 2, 2006
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndromeKyu-Seon Oh, Sikandar G Khan, N G J Jaspers, et al.
Human Mutation|October 21, 2006
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndromeGiuseppe Zampino, Francesca Pantaleoni, Claudio Carta, et al.
Human Mutation|October 31, 2006
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversionPetr Vyletal, Jitka Sokolová, David N Cooper, et al.
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