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Human Mutation|September 17, 2014
Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesiaMuslim M Alsaadi, A Mesut Erzurumluoglu, Santiago Rodriguez, et al.Human Mutation|September 30, 2014
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophyJae-Ran Lee, Myriam Srour, Doyoun Kim, et al.Human Mutation|September 9, 2014
High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumorsAna M Ferreira, Iina Tuominen, Krista van Dijk-Bos, et al.Human Mutation|September 9, 2014
A new overgrowth syndrome is due to mutations in RNF125Jair Tenorio, Alicia Mansilla, María Valencia, et al.Human Mutation|September 11, 2014
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilitySandra Donkervoort, Ying Hu, Tanya Stojkovic, et al.Human Mutation|September 11, 2014
Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletionsHildegard Kehrer-Sawatzki, Kathrin Bengesser, Tom Callens, et al.Human Mutation|September 11, 2014
Mutation update: the spectra of nebulin variants and associated myopathiesVilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, et al.Human Mutation|August 13, 2014
Mutational and functional analysis of the tumor-suppressor PTPRD in human melanomaVijay Walia, Todd D Prickett, Jung-Sik Kim, et al.Human Mutation|July 29, 2014
A new workflow for whole-genome sequencing of single human cellsVera Binder, Christoph Bartenhagen, Vera Okpanyi, et al.Human Mutation|July 22, 2014
Online registry for mutations in hereditary amyloidosis including nomenclature recommendationsDorota M Rowczenio, Islam Noor, Julian D Gillmore, et al.Pageof 583