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Holger Prokisch

Showing results (121-130 of 394) with videos related to

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Biochemistry|March 14, 2022
Protonation-Dependent Sequencing of 5-Formylcytidine in RNACourtney N Link, Supuni Thalalla Gamage, Diamond Gallimore, et al.
Nature Genetics|July 23, 2002
Systematic screen for human disease genes in yeastLars M Steinmetz, Curt Scharfe, Adam M Deutschbauer, et al.
Neuropediatrics|August 17, 2018
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 PatientsReka Kovacs-Nagy, Gilles Morin, Maria Al Nouri, et al.
BMC Medicine|February 3, 2026
Association of DNA methylation with hypertension and blood pressure: a 7-year longitudinal study from KORA F4/FF4Liye Lai, Angelina Shin Yee Jong, Thomas Delerue, et al.
Journal of the National Cancer Institute|December 10, 2022
Reply to Evans and WoodwardChristian P Kratz, Dmitrii Smirnov, Robert Autry, et al.
Journal of the National Cancer Institute|April 2, 2023
Reply to Li and ColleaguesChristian P Kratz, Dmitrii Smirnov, Robert Autry, et al.
Journal of the National Cancer Institute|August 18, 2022
Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With CancerChristian P Kratz, Dmitrii Smirnov, Robert Autry, et al.
Molecular Genetics and Metabolism|June 18, 2021
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defectMarisa W Friederich, Gabrielle C Geddes, Saskia B Wortmann, et al.
JIMD Reports|June 21, 2018
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic EncephalopathyArcangela Iuso, Bader Alhaddad, Corina Weigel, et al.
American Journal of Human Genetics|May 22, 2012
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosisDaniele Ghezzi, Enrico Baruffini, Tobias B Haack, et al.
Pageof 40

Showing results (121-130 of 394) with videos related to

Sort By:
Pageof 40
Biochemistry|March 14, 2022
Protonation-Dependent Sequencing of 5-Formylcytidine in RNACourtney N Link, Supuni Thalalla Gamage, Diamond Gallimore, et al.
Nature Genetics|July 23, 2002
Systematic screen for human disease genes in yeastLars M Steinmetz, Curt Scharfe, Adam M Deutschbauer, et al.
Neuropediatrics|August 17, 2018
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 PatientsReka Kovacs-Nagy, Gilles Morin, Maria Al Nouri, et al.
BMC Medicine|February 3, 2026
Association of DNA methylation with hypertension and blood pressure: a 7-year longitudinal study from KORA F4/FF4Liye Lai, Angelina Shin Yee Jong, Thomas Delerue, et al.
Journal of the National Cancer Institute|December 10, 2022
Reply to Evans and WoodwardChristian P Kratz, Dmitrii Smirnov, Robert Autry, et al.
Journal of the National Cancer Institute|April 2, 2023
Reply to Li and ColleaguesChristian P Kratz, Dmitrii Smirnov, Robert Autry, et al.
Journal of the National Cancer Institute|August 18, 2022
Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With CancerChristian P Kratz, Dmitrii Smirnov, Robert Autry, et al.
Molecular Genetics and Metabolism|June 18, 2021
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defectMarisa W Friederich, Gabrielle C Geddes, Saskia B Wortmann, et al.
JIMD Reports|June 21, 2018
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic EncephalopathyArcangela Iuso, Bader Alhaddad, Corina Weigel, et al.
American Journal of Human Genetics|May 22, 2012
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosisDaniele Ghezzi, Enrico Baruffini, Tobias B Haack, et al.
Pageof 40