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Human mutation

Showing results (1281-1290 of 5,734) with videos related to

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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.
Human Mutation|October 23, 2012
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine diseaseAlfonso Oyarzabal, Mercedes Martínez-Pardo, Begoña Merinero, et al.
Human Mutation|January 22, 2015
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutationsCatherine L Bladen, David Salgado, Soledad Monges, et al.
Human Mutation|July 2, 2014
Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomasKati Kämpjärvi, Min Ju Park, Miika Mehine, et al.
Pageof 574

Showing results (1281-1290 of 5,734) with videos related to

Sort By:
Pageof 574
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.
Human Mutation|October 23, 2012
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine diseaseAlfonso Oyarzabal, Mercedes Martínez-Pardo, Begoña Merinero, et al.
Human Mutation|January 22, 2015
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutationsCatherine L Bladen, David Salgado, Soledad Monges, et al.
Human Mutation|July 2, 2014
Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomasKati Kämpjärvi, Min Ju Park, Miika Mehine, et al.
Pageof 574