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David R Thorburn

Showing results (61-70 of 173) with videos related to

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Mitochondrion|August 17, 2010
Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers SyndromeAlison G Compton, Christopher Troedson, Meredith Wilson, et al.
Human Molecular Genetics|December 25, 2013
Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signalingAlexandra Lopes Costa, Carole Le Bachelier, Lise Mathieu, et al.
European Journal of Human Genetics : EJHG|October 21, 2016
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem diseaseAhmad Alodaib, Nara Sobreira, Wendy A Gold, et al.
JIMD Reports|September 14, 2022
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorderMilena M Andzelm, Shanti Balasubramaniam, Edward Yang, et al.
Molecular & Cellular Proteomics : MCP|April 23, 2020
HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IVDaniella H Hock, Boris Reljic, Ching-Seng Ang, et al.
Developmental Cell|October 16, 2008
Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart developmentJörg-Detlef Drenckhahn, Quenten P Schwarz, Stephen Gray, et al.
Genes|April 30, 2021
Application of Genome Sequencing from Blood to Diagnose Mitochondrial DiseasesRocio Rius, Alison G Compton, Naomi L Baker, et al.
American Journal of Medical Genetics. Part A|May 11, 2026
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic GenomicsTeresa Zhao, Andrew P Fennell, Tanavi Sharma, et al.
Mitochondrion|November 3, 2015
A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndromeRachael M Duff, Anne-Marie J Shearwood, Judith Ermer, et al.
BMC Medical Ethics|October 8, 2025
Public funding for mitochondrial donation: An Australian public deliberationAinsley J Newson, Jane Williams, Giuliana Fuscaldo, et al.
Pageof 18

Showing results (61-70 of 173) with videos related to

Sort By:
Pageof 18
Mitochondrion|August 17, 2010
Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers SyndromeAlison G Compton, Christopher Troedson, Meredith Wilson, et al.
Human Molecular Genetics|December 25, 2013
Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signalingAlexandra Lopes Costa, Carole Le Bachelier, Lise Mathieu, et al.
European Journal of Human Genetics : EJHG|October 21, 2016
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem diseaseAhmad Alodaib, Nara Sobreira, Wendy A Gold, et al.
JIMD Reports|September 14, 2022
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorderMilena M Andzelm, Shanti Balasubramaniam, Edward Yang, et al.
Molecular & Cellular Proteomics : MCP|April 23, 2020
HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IVDaniella H Hock, Boris Reljic, Ching-Seng Ang, et al.
Developmental Cell|October 16, 2008
Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart developmentJörg-Detlef Drenckhahn, Quenten P Schwarz, Stephen Gray, et al.
Genes|April 30, 2021
Application of Genome Sequencing from Blood to Diagnose Mitochondrial DiseasesRocio Rius, Alison G Compton, Naomi L Baker, et al.
American Journal of Medical Genetics. Part A|May 11, 2026
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic GenomicsTeresa Zhao, Andrew P Fennell, Tanavi Sharma, et al.
Mitochondrion|November 3, 2015
A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndromeRachael M Duff, Anne-Marie J Shearwood, Judith Ermer, et al.
BMC Medical Ethics|October 8, 2025
Public funding for mitochondrial donation: An Australian public deliberationAinsley J Newson, Jane Williams, Giuliana Fuscaldo, et al.
Pageof 18