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Ruth M Brown

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Human Genetics|May 13, 2004
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiencyRuth M Brown, Rosemary A Head, Ivan I Boubriak, et al.
Annals of Neurology|July 29, 2005
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiencyRosemary A Head, Ruth M Brown, Zarazuela Zolkipli, et al.
Molecular Ecology|July 13, 2010
Range expansion and hybridization in Round Island petrels (Pterodroma spp.): evidence from microsatellite genotypesRuth M Brown, Richard A Nichols, Chris G Faulkes, et al.
American Journal of Human Genetics|October 2, 2012
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defectAlexandre Janer, Hana Antonicka, Emilie Lalonde, et al.
Plos One|June 10, 2011
Phylogenetic relationships in Pterodroma petrels are obscured by recent secondary contact and hybridizationRuth M Brown, William C Jordan, Chris G Faulkes, et al.
Orphanet Journal of Rare Diseases|July 9, 2013
SURF1 deficiency: a multi-centre natural history studyYehani Wedatilake, Ruth M Brown, Robert McFarland, et al.
Human Genetics|November 2, 2019
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pairAlejandro Horga, Catherine E Woodward, Alberto Mills, et al.
Brain : a Journal of Neurology|October 30, 2015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian populationMonika Oláhová, Steven A Hardy, Julie Hall, et al.
Journal of Medical Genetics|July 15, 2016
The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial diseaseYi Shiau Ng, Charlotte L Alston, Daria Diodato, et al.
Brain : a Journal of Neurology|December 17, 2013
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5Peter R Baker, Marisa W Friederich, Michael A Swanson, et al.
Pageof 2

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

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Human Genetics|May 13, 2004
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiencyRuth M Brown, Rosemary A Head, Ivan I Boubriak, et al.
Annals of Neurology|July 29, 2005
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiencyRosemary A Head, Ruth M Brown, Zarazuela Zolkipli, et al.
Molecular Ecology|July 13, 2010
Range expansion and hybridization in Round Island petrels (Pterodroma spp.): evidence from microsatellite genotypesRuth M Brown, Richard A Nichols, Chris G Faulkes, et al.
American Journal of Human Genetics|October 2, 2012
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defectAlexandre Janer, Hana Antonicka, Emilie Lalonde, et al.
Plos One|June 10, 2011
Phylogenetic relationships in Pterodroma petrels are obscured by recent secondary contact and hybridizationRuth M Brown, William C Jordan, Chris G Faulkes, et al.
Orphanet Journal of Rare Diseases|July 9, 2013
SURF1 deficiency: a multi-centre natural history studyYehani Wedatilake, Ruth M Brown, Robert McFarland, et al.
Human Genetics|November 2, 2019
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pairAlejandro Horga, Catherine E Woodward, Alberto Mills, et al.
Brain : a Journal of Neurology|October 30, 2015
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian populationMonika Oláhová, Steven A Hardy, Julie Hall, et al.
Journal of Medical Genetics|July 15, 2016
The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial diseaseYi Shiau Ng, Charlotte L Alston, Daria Diodato, et al.
Brain : a Journal of Neurology|December 17, 2013
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5Peter R Baker, Marisa W Friederich, Michael A Swanson, et al.
Pageof 2