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Human Mutation|October 25, 2024
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory ElementMaria R Replogle, Samuel Thompson, Linda M Reis, et al.
Human Mutation|May 3, 2006
GENOMIZER: an integrated analysis system for genome-wide association dataAndre Franke, Andreas Wollstein, Markus Teuber, et al.
Human Mutation|May 3, 2006
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxaAndrew J Lotery, Dominique Baas, Caroline Ridley, et al.
Human Mutation|March 3, 2006
Present status of outcome prediction of invasive coronary treatment by using genetic markersHenry Völzke, Rainer Rettig
Human Mutation|June 21, 2006
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IVRebecca Pollitt, Robert McMahon, Janice Nunn, et al.
Human Mutation|June 21, 2006
Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activationSteven A Lietman, Natasha Kalinchinko, Xichao Deng, et al.
Human Mutation|June 23, 2006
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitisNiels Teich, Jonas Rosendahl, Miklós Tóth, et al.
Human Mutation|May 10, 2006
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic settingAnnemarie H van der Hout, Ans M W van den Ouweland, Rob B van der Luijt, et al.
Human Mutation|April 1, 2006
Denaturing temperature selection may underestimate keratin mutation detection by DHPLCPavel Strnad, Tim Christian Lienau, Guo-Zhong Tao, et al.
Human Mutation|April 1, 2006
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardationJeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen, et al.
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