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Richard J Rodenburg

Showing results (131-140 of 137) with videos related to

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Nature Genetics|June 12, 2012
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafnessSaskia B Wortmann, Frédéric M Vaz, Thatjana Gardeitchik, et al.
Annals of Clinical and Translational Neurology|May 23, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementTobias B Haack, Christopher B Jackson, Kei Murayama, et al.
The Journal of Clinical Investigation|November 1, 2019
KBTBD13 is an actin-binding protein that modulates muscle kineticsJosine M de Winter, Joery P Molenaar, Michaela Yuen, et al.
The Journal of Clinical Investigation|February 1, 2024
KBTBD13 is an actin-binding protein that modulates muscle kineticsJosine M de Winter, Joery P Molenaar, Michaela Yuen, et al.
The New England Journal of Medicine|June 15, 2026
Clinical Long-Read Genome Sequencing for Rare-Disease DiagnosticsTessa J J de Bitter, Bart van der Sanden, Lydia Sagath, et al.
Nature Communications|October 5, 2018
Pathogenic variants in glutamyl-tRNA<sup>Gln</sup> amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorderMarisa W Friederich, Sharita Timal, Christopher A Powell, et al.
Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Pageof 14

Showing results (131-140 of 137) with videos related to

Sort By:
Pageof 14
You have reached the last page of results.This site can display upto 137 results.
Nature Genetics|June 12, 2012
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafnessSaskia B Wortmann, Frédéric M Vaz, Thatjana Gardeitchik, et al.
Annals of Clinical and Translational Neurology|May 23, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementTobias B Haack, Christopher B Jackson, Kei Murayama, et al.
The Journal of Clinical Investigation|November 1, 2019
KBTBD13 is an actin-binding protein that modulates muscle kineticsJosine M de Winter, Joery P Molenaar, Michaela Yuen, et al.
The Journal of Clinical Investigation|February 1, 2024
KBTBD13 is an actin-binding protein that modulates muscle kineticsJosine M de Winter, Joery P Molenaar, Michaela Yuen, et al.
The New England Journal of Medicine|June 15, 2026
Clinical Long-Read Genome Sequencing for Rare-Disease DiagnosticsTessa J J de Bitter, Bart van der Sanden, Lydia Sagath, et al.
Nature Communications|October 5, 2018
Pathogenic variants in glutamyl-tRNA<sup>Gln</sup> amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorderMarisa W Friederich, Sharita Timal, Christopher A Powell, et al.
Brain : a Journal of Neurology|November 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.
Pageof 14