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Human mutation

Showing results (1291-1300 of 5,734) with videos related to

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Human Mutation|February 24, 2015
GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretationMichael M Gottlieb, David J Arenillas, Savanie Maithripala, et al.
Human Mutation|February 24, 2015
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short statureSophie R Wang, Christina M Jacobsen, Heather Carmichael, et al.
Human Mutation|February 17, 2015
New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same geneNara Sobreira, François Schiettecatte, Corinne Boehm, et al.
Human Mutation|March 5, 2015
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patientsPatricie Burda, Alexandra Schäfer, Terttu Suormala, et al.
Human Mutation|March 11, 2015
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotypeHeng Meng, Hai-Qing Xu, Lu Yu, et al.
Human Mutation|March 14, 2015
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresiaEllen A Tsai, Christopher M Grochowski, Alexandra M Falsey, et al.
Human Mutation|April 18, 2015
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric PhenotypesAbdul Noor, Lucie Dupuis, Kirti Mittal, et al.
Human Mutation|July 6, 2020
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplarsDaffodil Canson, Dylan Glubb, Amanda B Spurdle
Human Mutation|July 6, 2020
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowthFrederike L Harms, Padmini Parthasarathy, Dennis Zorndt, et al.
Human Mutation|July 10, 2020
Human genes differ by their UV sensitivity estimated through analysis of UV-induced silent mutations in melanomaIvan P Gorlov, Christopher I Amos, Spiridon Tsavachidis, et al.
Pageof 574

Showing results (1291-1300 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|February 24, 2015
GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretationMichael M Gottlieb, David J Arenillas, Savanie Maithripala, et al.
Human Mutation|February 24, 2015
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short statureSophie R Wang, Christina M Jacobsen, Heather Carmichael, et al.
Human Mutation|February 17, 2015
New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same geneNara Sobreira, François Schiettecatte, Corinne Boehm, et al.
Human Mutation|March 5, 2015
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patientsPatricie Burda, Alexandra Schäfer, Terttu Suormala, et al.
Human Mutation|March 11, 2015
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotypeHeng Meng, Hai-Qing Xu, Lu Yu, et al.
Human Mutation|March 14, 2015
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresiaEllen A Tsai, Christopher M Grochowski, Alexandra M Falsey, et al.
Human Mutation|April 18, 2015
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric PhenotypesAbdul Noor, Lucie Dupuis, Kirti Mittal, et al.
Human Mutation|July 6, 2020
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplarsDaffodil Canson, Dylan Glubb, Amanda B Spurdle
Human Mutation|July 6, 2020
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowthFrederike L Harms, Padmini Parthasarathy, Dennis Zorndt, et al.
Human Mutation|July 10, 2020
Human genes differ by their UV sensitivity estimated through analysis of UV-induced silent mutations in melanomaIvan P Gorlov, Christopher I Amos, Spiridon Tsavachidis, et al.
Pageof 574