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Human Mutation|October 16, 2012
MT-ND5 mutation causing exercise intolerance displays intercellular heteroplasmy and rapid shifts between generationsPetter Schandl Sanaker, Laurence A BindoffHuman Mutation|July 12, 2020
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletionsSilvia Marchet, Andrea Legati, Alessia Nasca, et al.Human Mutation|July 12, 2020
De novo mutation and skewed X-inactivation in girl with BCAP31-related syndromeHsiao-Jung Kao, Hung-Lun Chiang, Hsiao-Huei Chen, et al.Human Mutation|May 16, 2014
Structural genomic variation as risk factor for idiopathic recurrent miscarriageLiina Nagirnaja, Priit Palta, Laura Kasak, et al.Human Mutation|June 17, 2014
Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1AJasmin Hettich, Scott D Ryan, Osmar Norberto de Souza, et al.Human Mutation|May 20, 2014
Genetic and epigenetic determinants of low dysferlin expression in monocytesEduard Gallardo, Arunkanth Ankala, Yaiza Núñez-Álvarez, et al.Human Mutation|June 14, 2014
Assessing how reduced expression levels of the mismatch repair genes MLH1, MSH2, and MSH6 affect repair efficiencyMinttu Kansikas, Mariann Kasela, Jukka Kantelinen, et al.Human Mutation|June 18, 2014
Spectrum of the mutations in Bernard-Soulier syndromeAnna Savoia, Shinji Kunishima, Daniela De Rocco, et al.Human Mutation|January 8, 2014
A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnosticsJanine L Bakker, Eswary Thirthagiri, Saskia E van Mil, et al.Human Mutation|January 8, 2014
Mutant TP53 posttranslational modifications: challenges and opportunitiesThuy-Ai Nguyen, Daniel Menendez, Michael A Resnick, et al.Pageof 575