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Human Mutation|January 4, 2012
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin geneGaelle Blandin, Christophe Beroud, Veronique Labelle, et al.Human Mutation|January 4, 2012
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype studyMijke M M Verhagen, James I Last, Frans B L Hogervorst, et al.Human Mutation|December 23, 2011
Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cellsAngelika C Roehl, Tanja Mussotter, David N Cooper, et al.Human Mutation|December 21, 2012
Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stressDaniela T Soltys, Clarissa R R Rocha, Letícia K Lerner, et al.Human Mutation|December 21, 2012
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsDinu Antony, Anita Becker-Heck, Maimoona A Zariwala, et al.Human Mutation|December 21, 2012
Cancer risks for MLH1 and MSH2 mutation carriersJames G Dowty, Aung K Win, Daniel D Buchanan, et al.Human Mutation|January 3, 2013
AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screeningKyle R Taylor, Adam P Deluca, A Eliot Shearer, et al.Human Mutation|January 3, 2013
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophyAlice E Davidson, Panagiotis I Sergouniotis, Donna S Mackay, et al.Human Mutation|June 9, 2012
Santorini mutation detection meeting 2011: rapid advance in sequencing technology poses challenges for interpretation of genetic variationsEleana F Stavrou, Anne GorielyHuman Mutation|September 13, 2013
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalitiesHanna IJspeert, Adilia Warris, Michiel van der Flier, et al.Pageof 575