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Human Mutation|March 15, 2012
Rett networked database: an integrated clinical and genetic network of Rett syndrome databasesElisa Grillo, Laurent Villard, Angus Clarke, et al.
Human Mutation|March 1, 2012
Chromosomal variation in lymphoblastoid cell linesMatthew D Shirley, Joseph D Baugher, Eric L Stevens, et al.
Human Mutation|September 4, 2008
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinismSarah E Flanagan, Séverine Clauin, Christine Bellanné-Chantelot, et al.
Human Mutation|September 19, 2008
Pleiotropic functional properties of androgen receptor mutants in prostate cancerJean-Pierre Bergerat, Jocelyn Céraline
Human Mutation|September 11, 2008
Novel mutations of the suppressor gene PTEN in colorectal carcinomas stratified by microsatellite instability- and TP53 mutation- statusStine A Danielsen, Guro E Lind, Merete Bjørnslett, et al.
Human Mutation|September 11, 2008
MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression systemLaura Belvederesi, Francesca Bianchi, Eva Galizia, et al.
Human Mutation|September 20, 2007
Multiplex PCR-based real-time invader assay (mPCR-RETINA): a novel SNP-based method for detecting allelic asymmetries within copy number variation regionsNaoya Hosono, Michiaki Kubo, Yumiko Tsuchiya, et al.
Human Mutation|July 24, 2008
Lipoprotein lipase variants associated with an endophenotype of hypertension: hypertension combined with elevated triglyceridesPei Chen, Yuh-Shan Jou, Cathy S J Fann, et al.
Human Mutation|March 27, 2012
An AT-rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screeningRaffaele Palmirotta, Maria Laura De Marchis, Giorgia Ludovici, et al.
Human Mutation|February 15, 2022
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophyMegan A Waldrop, Steven A Moore, Katherine D Mathews, et al.
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