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Human mutation

Showing results (91-100 of 6,539) with videos related to

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Human Mutation|December 24, 2002
Further evidence for role of a promoter variant in the TNFRSF6 gene in Alzheimer diseaseLars Feuk, Jonathan A Prince, Kaj Blennow, et al.
Human Mutation|December 24, 2002
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10Barbara Zoll, Lars Petersen, Katrin Lange, et al.
Human Mutation|December 24, 2002
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian MalaysO Ainoon, Y H Yu, A L Amir Muhriz, et al.
Human Mutation|April 4, 2003
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotypeJean-Christophe Charniot, Cécile Pascal, Christiane Bouchier, et al.
Human Mutation|April 4, 2003
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiencyLaure Thuillier, Hidayeth Rostane, Veronique Droin, et al.
Human Mutation|April 4, 2003
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosisCarla A Teixeira, Janice Espinola, Liang Huo, et al.
Human Mutation|April 4, 2003
A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gatingXander H T Wehrens, Tom Rossenbacker, Roselie J Jongbloed, et al.
Human Mutation|April 4, 2003
Molecular variation of human HSP90alpha and HSP90beta genes in CaucasiansGiuseppe Passarino, Gianpiero L Cavalleri, Rosalia Stecconi, et al.
Human Mutation|March 6, 2003
The role of TP53 in Cervical carcinogenesisMassimo Tommasino, Rosita Accardi, Sandra Caldeira, et al.
Human Mutation|March 6, 2003
Absence of exon 15 BRAF germline mutations in familial melanomaJulie Lang, Maureen Boxer, Rona MacKie
Pageof 654

Showing results (91-100 of 6,539) with videos related to

Sort By:
Pageof 654
Human Mutation|December 24, 2002
Further evidence for role of a promoter variant in the TNFRSF6 gene in Alzheimer diseaseLars Feuk, Jonathan A Prince, Kaj Blennow, et al.
Human Mutation|December 24, 2002
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10Barbara Zoll, Lars Petersen, Katrin Lange, et al.
Human Mutation|December 24, 2002
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian MalaysO Ainoon, Y H Yu, A L Amir Muhriz, et al.
Human Mutation|April 4, 2003
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotypeJean-Christophe Charniot, Cécile Pascal, Christiane Bouchier, et al.
Human Mutation|April 4, 2003
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiencyLaure Thuillier, Hidayeth Rostane, Veronique Droin, et al.
Human Mutation|April 4, 2003
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosisCarla A Teixeira, Janice Espinola, Liang Huo, et al.
Human Mutation|April 4, 2003
A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gatingXander H T Wehrens, Tom Rossenbacker, Roselie J Jongbloed, et al.
Human Mutation|April 4, 2003
Molecular variation of human HSP90alpha and HSP90beta genes in CaucasiansGiuseppe Passarino, Gianpiero L Cavalleri, Rosalia Stecconi, et al.
Human Mutation|March 6, 2003
The role of TP53 in Cervical carcinogenesisMassimo Tommasino, Rosita Accardi, Sandra Caldeira, et al.
Human Mutation|March 6, 2003
Absence of exon 15 BRAF germline mutations in familial melanomaJulie Lang, Maureen Boxer, Rona MacKie
Pageof 654