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M Vance

Showing results (211-220 of 428) with videos related to

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American Journal of Human Genetics|February 11, 1999
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7M C Speer, J M Vance, J M Grubber, et al.
American Journal of Human Genetics|November 1, 1996
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutationE M McNally, M R Passos-Bueno, C G Bönnemann, et al.
Science Translational Medicine|December 10, 2025
Farm exposure in infancy is associated with elevated systemic IgG<sub>4</sub>, mucosal IgA responses, and lower incidence of food allergyCourtney M Jackson, Elizabeth Ponko, Natalie M Vance, et al.
Human Mutation|October 20, 2011
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)Heather M McLaughlin, Reiko Sakaguchi, William Giblin, et al.
Brain Communications|November 25, 2024
Cerebral amyloid angiopathy impacts neurofibrillary tangle burden and cognitionDana Godrich, Jeremy Pasteris, Eden R Martin, et al.
BMC Biology|February 10, 2022
Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitnessLana Meshnik, Dan Bar-Yaacov, Dana Kasztan, et al.
Neurology. Genetics|April 29, 2016
DNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W Beecham, et al.
British Journal of Haematology|April 6, 2007
Genetic polymorphisms associated with priapism in sickle cell diseaseLaine Elliott, Allison E Ashley-Koch, Laura De Castro, et al.
Human Mutation|August 30, 2012
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoAimée Vester, Gisselle Velez-Ruiz, Heather M McLaughlin, et al.
The Journal of Infectious Diseases|February 4, 2015
Effector Phenotype of Plasmodium falciparum-Specific CD4+ T Cells Is Influenced by Both Age and Transmission Intensity in Naturally Exposed PopulationsMichelle J Boyle, Prasanna Jagannathan, Katherine Bowen, et al.
Pageof 43

Showing results (211-220 of 428) with videos related to

Sort By:
Pageof 43
American Journal of Human Genetics|February 11, 1999
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7M C Speer, J M Vance, J M Grubber, et al.
American Journal of Human Genetics|November 1, 1996
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutationE M McNally, M R Passos-Bueno, C G Bönnemann, et al.
Science Translational Medicine|December 10, 2025
Farm exposure in infancy is associated with elevated systemic IgG<sub>4</sub>, mucosal IgA responses, and lower incidence of food allergyCourtney M Jackson, Elizabeth Ponko, Natalie M Vance, et al.
Human Mutation|October 20, 2011
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)Heather M McLaughlin, Reiko Sakaguchi, William Giblin, et al.
Brain Communications|November 25, 2024
Cerebral amyloid angiopathy impacts neurofibrillary tangle burden and cognitionDana Godrich, Jeremy Pasteris, Eden R Martin, et al.
BMC Biology|February 10, 2022
Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitnessLana Meshnik, Dan Bar-Yaacov, Dana Kasztan, et al.
Neurology. Genetics|April 29, 2016
DNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W Beecham, et al.
British Journal of Haematology|April 6, 2007
Genetic polymorphisms associated with priapism in sickle cell diseaseLaine Elliott, Allison E Ashley-Koch, Laura De Castro, et al.
Human Mutation|August 30, 2012
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoAimée Vester, Gisselle Velez-Ruiz, Heather M McLaughlin, et al.
The Journal of Infectious Diseases|February 4, 2015
Effector Phenotype of Plasmodium falciparum-Specific CD4+ T Cells Is Influenced by Both Age and Transmission Intensity in Naturally Exposed PopulationsMichelle J Boyle, Prasanna Jagannathan, Katherine Bowen, et al.
Pageof 43