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American Journal of Medical Genetics. Part A
|
August 12, 2003
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene
Linda De Meirleir, Sara Seneca, Eliane Damis, et al.
European Journal of Human Genetics : EJHG
|
August 24, 2017
Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells
Filippo Zambelli, Kim Vancampenhout, Dorien Daneels, et al.
Human Mutation
|
June 3, 2010
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency
María Morán, Lorena Marín-Buera, M Carmen Gil-Borlado, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 3, 2013
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)
Emmanuel Scalais, Ronit Chafai, Rudy Van Coster, et al.
Journal of Proteomics
|
September 21, 2014
Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency
Lorena Marín-Buera, Alberto García-Bartolomé, María Morán, et al.
Molecular Genetics & Genomic Medicine
|
December 15, 2018
Clinical implementation of gene panel testing for lysosomal storage diseases
Alexander Gheldof, Sara Seneca, Katrien Stouffs, et al.
Journal of Inherited Metabolic Disease
|
June 19, 2013
Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency
Nuria Buján, Angela Arias, Raquel Montero, et al.
BMC Cancer
|
June 13, 2024
Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers
Sofie Joris, Philippe Giron, Catharina Olsen, et al.
Plos One
|
November 11, 2014
A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome
Kim Vancampenhout, Ben Caljon, Claudia Spits, et al.
Molecular Genetics and Metabolism Reports
|
November 30, 2016
Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
Julie Harvengt, Catherine Wanty, Boel De Paepe, et al.
Page
of 9
Search research articles
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Showing results (51-60 of 88) with videos related to
Sort By:
Page
of 9
American Journal of Medical Genetics. Part A
|
August 12, 2003
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene
Linda De Meirleir, Sara Seneca, Eliane Damis, et al.
European Journal of Human Genetics : EJHG
|
August 24, 2017
Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells
Filippo Zambelli, Kim Vancampenhout, Dorien Daneels, et al.
Human Mutation
|
June 3, 2010
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency
María Morán, Lorena Marín-Buera, M Carmen Gil-Borlado, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 3, 2013
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)
Emmanuel Scalais, Ronit Chafai, Rudy Van Coster, et al.
Journal of Proteomics
|
September 21, 2014
Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency
Lorena Marín-Buera, Alberto García-Bartolomé, María Morán, et al.
Molecular Genetics & Genomic Medicine
|
December 15, 2018
Clinical implementation of gene panel testing for lysosomal storage diseases
Alexander Gheldof, Sara Seneca, Katrien Stouffs, et al.
Journal of Inherited Metabolic Disease
|
June 19, 2013
Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency
Nuria Buján, Angela Arias, Raquel Montero, et al.
BMC Cancer
|
June 13, 2024
Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers
Sofie Joris, Philippe Giron, Catharina Olsen, et al.
Plos One
|
November 11, 2014
A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome
Kim Vancampenhout, Ben Caljon, Claudia Spits, et al.
Molecular Genetics and Metabolism Reports
|
November 30, 2016
Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
Julie Harvengt, Catherine Wanty, Boel De Paepe, et al.
Page
of 9