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Human mutation

Showing results (11-20 of 6,539) with videos related to

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Human Mutation|August 14, 2015
Use of model organism and disease databases to support matchmaking for human disease gene discoveryChristopher J Mungall, Nicole L Washington, Jeremy Nguyen-Xuan, et al.
Human Mutation|July 30, 2015
Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer PatientsAnna Ronowicz, Anna Janaszak-Jasiecka, Jarosław Skokowski, et al.
Human Mutation|July 30, 2015
GeneMatcher: a matching tool for connecting investigators with an interest in the same geneNara Sobreira, François Schiettecatte, David Valle, et al.
Human Mutation|April 28, 2016
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation SyndromeAlexej Knaus, Tomonari Awaya, Ingo Helbig, et al.
Human Mutation|April 28, 2016
Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid ResistanceGéraldine Vitellius, Jérôme Fagart, Brigitte Delemer, et al.
Human Mutation|April 28, 2016
Mitochondrial DNA Variation and Heteroplasmy in Monozygotic Twins Clinically Discordant for Multiple SclerosisNicole Y P Souren, Lisa A Gerdes, Tania Kümpfel, et al.
Human Mutation|April 28, 2016
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor ImpairmentMyriam Srour, Véronique Caron, Toni Pearson, et al.
Human Mutation|April 28, 2016
Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal DisorganizationLudovic Jeanson, Lucie Thomas, Bruno Copin, et al.
Human Mutation|February 14, 2016
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase DeficiencyD Sean Froese, Martina Huemer, Terttu Suormala, et al.
Human Mutation|March 8, 2016
A Mechanistic Link between L1 Retrotransposition and ChromothripsisJian-Min Chen, David N Cooper
Pageof 654

Showing results (11-20 of 6,539) with videos related to

Sort By:
Pageof 654
Human Mutation|August 14, 2015
Use of model organism and disease databases to support matchmaking for human disease gene discoveryChristopher J Mungall, Nicole L Washington, Jeremy Nguyen-Xuan, et al.
Human Mutation|July 30, 2015
Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer PatientsAnna Ronowicz, Anna Janaszak-Jasiecka, Jarosław Skokowski, et al.
Human Mutation|July 30, 2015
GeneMatcher: a matching tool for connecting investigators with an interest in the same geneNara Sobreira, François Schiettecatte, David Valle, et al.
Human Mutation|April 28, 2016
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation SyndromeAlexej Knaus, Tomonari Awaya, Ingo Helbig, et al.
Human Mutation|April 28, 2016
Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid ResistanceGéraldine Vitellius, Jérôme Fagart, Brigitte Delemer, et al.
Human Mutation|April 28, 2016
Mitochondrial DNA Variation and Heteroplasmy in Monozygotic Twins Clinically Discordant for Multiple SclerosisNicole Y P Souren, Lisa A Gerdes, Tania Kümpfel, et al.
Human Mutation|April 28, 2016
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor ImpairmentMyriam Srour, Véronique Caron, Toni Pearson, et al.
Human Mutation|April 28, 2016
Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal DisorganizationLudovic Jeanson, Lucie Thomas, Bruno Copin, et al.
Human Mutation|February 14, 2016
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase DeficiencyD Sean Froese, Martina Huemer, Terttu Suormala, et al.
Human Mutation|March 8, 2016
A Mechanistic Link between L1 Retrotransposition and ChromothripsisJian-Min Chen, David N Cooper
Pageof 654