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Human Mutation|February 1, 2011
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)Ludwine Messiaen, Julia Vogt, Kathrin Bengesser, et al.Human Mutation|February 1, 2011
Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patientsKároly Szuhai, Ivy Jennes, Danielle de Jong, et al.Human Mutation|November 11, 2010
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutationsGuojie Zhang, Zhang Pei, Michael Krawczak, et al.Human Mutation|February 11, 2011
Homozygosity mapping on a single patient: identification of homozygous regions of recent common ancestry by using population dataLu Zhang, Wanling Yang, Dingge Ying, et al.Human Mutation|February 11, 2011
BioGrid Australia facilitates collaborative medical and bioinformatics research across hospitals and medical research institutes by linking data from diverse disease and data typesRobert B Merriel, Peter Gibbs, Terence J O'Brien, et al.Human Mutation|February 11, 2011
Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cellsEva A L Wielders, Rob J Dekker, Ian Holt, et al.Human Mutation|February 11, 2011
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutationsSarah Ducamp, Caroline Kannengiesser, Mohamed Touati, et al.Human Mutation|February 11, 2011
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutationsBert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, et al.Human Mutation|March 27, 2010
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase IMariusz Walus, Elizabeth Kida, Adam A GolabekHuman Mutation|June 10, 2010
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndromeNoriko Miyake, Tomoki Kosho, Shuji Mizumoto, et al.Pageof 583