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Holger Prokisch

Showing results (211-220 of 395) with videos related to

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Annals of Clinical and Translational Neurology|April 25, 2026
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial DiseaseZhimei Liu, Xin Duan, Fatemeh Peymani, et al.
Plos One|July 16, 2011
Differences between human plasma and serum metabolite profilesZhonghao Yu, Gabi Kastenmüller, Ying He, et al.
American Journal of Human Genetics|January 26, 2016
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with EncephalocardiomyopathyLaura S Kremer, Felix Distelmaier, Bader Alhaddad, et al.
American Journal of Human Genetics|July 16, 2013
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathyTobias B Haack, Robert Kopajtich, Peter Freisinger, et al.
Human Genetics|March 11, 2019
The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locusKristina Schlicht, Piotr Nyczka, Amke Caliebe, et al.
Movement Disorders Clinical Practice|January 31, 2024
Dominant VPS16 Pathogenic Variants: Not Only Isolated DystoniaEdoardo Monfrini, Laura Avanzino, Giovanni Palermo, et al.
American Journal of Human Genetics|December 27, 2008
A genome-wide association study identifies three loci associated with mean platelet volumeChrista Meisinger, Holger Prokisch, Christian Gieger, et al.
Oxidative Medicine and Cellular Longevity|August 15, 2017
Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesRené G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, et al.
Human Mutation|March 14, 2021
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestationAlessandra Torraco, Alessia Nasca, Daniela Verrigni, et al.
Molecular Genetics and Metabolism|December 3, 2014
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutationsSiddharth Banka, Christian de Goede, Wyatt W Yue, et al.
Pageof 40

Showing results (211-220 of 395) with videos related to

Sort By:
Pageof 40
Annals of Clinical and Translational Neurology|April 25, 2026
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial DiseaseZhimei Liu, Xin Duan, Fatemeh Peymani, et al.
Plos One|July 16, 2011
Differences between human plasma and serum metabolite profilesZhonghao Yu, Gabi Kastenmüller, Ying He, et al.
American Journal of Human Genetics|January 26, 2016
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with EncephalocardiomyopathyLaura S Kremer, Felix Distelmaier, Bader Alhaddad, et al.
American Journal of Human Genetics|July 16, 2013
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathyTobias B Haack, Robert Kopajtich, Peter Freisinger, et al.
Human Genetics|March 11, 2019
The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locusKristina Schlicht, Piotr Nyczka, Amke Caliebe, et al.
Movement Disorders Clinical Practice|January 31, 2024
Dominant VPS16 Pathogenic Variants: Not Only Isolated DystoniaEdoardo Monfrini, Laura Avanzino, Giovanni Palermo, et al.
American Journal of Human Genetics|December 27, 2008
A genome-wide association study identifies three loci associated with mean platelet volumeChrista Meisinger, Holger Prokisch, Christian Gieger, et al.
Oxidative Medicine and Cellular Longevity|August 15, 2017
Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesRené G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, et al.
Human Mutation|March 14, 2021
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestationAlessandra Torraco, Alessia Nasca, Daniela Verrigni, et al.
Molecular Genetics and Metabolism|December 3, 2014
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutationsSiddharth Banka, Christian de Goede, Wyatt W Yue, et al.
Pageof 40