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Human Mutation|July 26, 2006
Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402HisMichael A Grassi, John H Fingert, Todd E Scheetz, et al.
Human Mutation|August 19, 2006
Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragmentJ Theuns, E Marjaux, M Vandenbulcke, et al.
Human Mutation|August 19, 2006
Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutationsWiktor Borozdin, Ana M Bravo Ferrer Acosta, Michael J Bamshad, et al.
Human Mutation|August 19, 2006
Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) - association with decreased enzyme functionElke Schaeffeler, Michel Eichelbaum, Walter Reinisch, et al.
Human Mutation|June 27, 2006
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL GeneGuntram Borck, Mohamed Zarhrate, Céline Cluzeau, et al.
Human Mutation|February 28, 2007
PhenCode: connecting ENCODE data with mutations and phenotypeBelinda Giardine, Cathy Riemer, Tim Hefferon, et al.
Human Mutation|October 28, 2006
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) geneBarbara Plecko, Karl Paul, Eduard Paschke, et al.
Human Mutation|November 11, 2006
Genotype-phenotype correlations in hereditary familial retinoblastomaMelissa Taylor, Catherine Dehainault, Laurence Desjardins, et al.
Human Mutation|November 8, 2006
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arraysChristopher M Stanczak, Zugen Chen, Yao-Hua Zhang, et al.
Human Mutation|February 20, 2007
Highly sensitive DNA detection and point mutation identification: an electrochemical approach based on the combined use of ligase and reverse molecular beaconZai-Sheng Wu, Jian-Hui Jiang, Guo-Li Shen, et al.
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