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Human Mutation|April 27, 2011
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferensBernhard Steiner, Jonas Rosendahl, Heiko Witt, et al.Human Mutation|April 27, 2011
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing lossMichael S Hildebrand, Matías Morín, Nicole C Meyer, et al.Human Mutation|April 27, 2011
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiencyKatsumi Higaki, Linjing Li, Udin Bahrudin, et al.Human Mutation|May 19, 2011
The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriersAmandine I Garcia, David G Cox, Laure Barjhoux, et al.Human Mutation|March 10, 2011
Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010Maija R J Kohonen-Corish, Finlay Macrae, Maurizio Genuardi, et al.Human Mutation|March 10, 2011
A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East AsiaRobert J Hardwick, Lee R Machado, Luciana W Zuccherato, et al.Human Mutation|March 26, 2011
Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX SymposiumGeorge P Patrinos, Federico Innocenti, Nancy Cox, et al.Human Mutation|December 14, 2011
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutationsHilde Monica Frostad Riise Stensland, Helle Bagterp Klenow, Lam Van Nguyen, et al.Human Mutation|November 19, 2011
Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposonSzilvia Solyom, Adam D Ewing, Dustin C Hancks, et al.Pageof 583