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European Journal of Human Genetics : EJHG
|
December 15, 2010
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease
Saskia J G Hoefs, Francjan J van Spronsen, Ellen W H Lenssen, et al.
European Journal of Human Genetics : EJHG
|
December 2, 2010
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle
Paulien Smits, Hana Antonicka, Peter M van Hasselt, et al.
Biochimica Et Biophysica Acta
|
February 18, 2015
Skeletal muscle mitochondria of NDUFS4-/- mice display normal maximal pyruvate oxidation and ATP production
Mohammad T Alam, Ganesh R Manjeri, Richard J Rodenburg, et al.
Metabolomics : Official Journal of the Metabolomic Society
|
January 13, 2021
One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation
Karien Esterhuizen, J Zander Lindeque, Shayne Mason, et al.
Genes
|
May 25, 2024
Mutations in <i>NSUN3</i>, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy
Cansu de Muijnck, Jacoline B Ten Brink, Hugoline G de Haan, et al.
Molecular Genetics and Metabolism
|
March 27, 2007
Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients
Rutger O Vogel, Mariël A M van den Brand, Richard J Rodenburg, et al.
Human Mutation
|
March 11, 2015
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss
Bryn D Webb, Patricia G Wheeler, Jacob J Hagen, et al.
Journal of the American College of Cardiology
|
November 19, 2021
Moderate Intensity Exercise Training Improves Skeletal Muscle Performance in Symptomatic and Asymptomatic Statin Users
Neeltje A E Allard, Lando Janssen, Thorben Aussieker, et al.
Plos Computational Biology
|
August 7, 2023
Comparative Clustering (CompaCt) of eukaryote complexomes identifies novel interactions and sheds light on protein complex evolution
Joeri van Strien, Felix Evers, Madhurya Lutikurti, et al.
JIMD Reports
|
January 4, 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?
Charlotte Thiels, Martin Fleger, Martina Huemer, et al.
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Search research articles
Search
Showing results (41-50 of 137) with videos related to
Sort By:
Page
of 14
European Journal of Human Genetics : EJHG
|
December 15, 2010
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease
Saskia J G Hoefs, Francjan J van Spronsen, Ellen W H Lenssen, et al.
European Journal of Human Genetics : EJHG
|
December 2, 2010
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle
Paulien Smits, Hana Antonicka, Peter M van Hasselt, et al.
Biochimica Et Biophysica Acta
|
February 18, 2015
Skeletal muscle mitochondria of NDUFS4-/- mice display normal maximal pyruvate oxidation and ATP production
Mohammad T Alam, Ganesh R Manjeri, Richard J Rodenburg, et al.
Metabolomics : Official Journal of the Metabolomic Society
|
January 13, 2021
One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation
Karien Esterhuizen, J Zander Lindeque, Shayne Mason, et al.
Genes
|
May 25, 2024
Mutations in <i>NSUN3</i>, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy
Cansu de Muijnck, Jacoline B Ten Brink, Hugoline G de Haan, et al.
Molecular Genetics and Metabolism
|
March 27, 2007
Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients
Rutger O Vogel, Mariël A M van den Brand, Richard J Rodenburg, et al.
Human Mutation
|
March 11, 2015
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss
Bryn D Webb, Patricia G Wheeler, Jacob J Hagen, et al.
Journal of the American College of Cardiology
|
November 19, 2021
Moderate Intensity Exercise Training Improves Skeletal Muscle Performance in Symptomatic and Asymptomatic Statin Users
Neeltje A E Allard, Lando Janssen, Thorben Aussieker, et al.
Plos Computational Biology
|
August 7, 2023
Comparative Clustering (CompaCt) of eukaryote complexomes identifies novel interactions and sheds light on protein complex evolution
Joeri van Strien, Felix Evers, Madhurya Lutikurti, et al.
JIMD Reports
|
January 4, 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?
Charlotte Thiels, Martin Fleger, Martina Huemer, et al.
Page
of 14