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Holger Prokisch

Showing results (261-270 of 396) with videos related to

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European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 7, 2023
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizuresElena Poggio, Lucia Barazzuol, Andrea Salmaso, et al.
Plos One|December 16, 2014
MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathyLore Becker, Eva Kling, Evelyn Schiller, et al.
American Journal of Human Genetics|July 19, 2016
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.
BMC Medicine|April 11, 2015
Multi-omic signature of body weight change: results from a population-based cohort studySimone Wahl, Susanne Vogt, Ferdinand Stückler, et al.
Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.
Molecular Genetics and Metabolism|December 28, 2014
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communitiesMarni J Falk, Lishuang Shen, Michael Gonzalez, et al.
Plos One|April 18, 2014
Mapping the genetic architecture of gene regulation in whole bloodKatharina Schramm, Carola Marzi, Claudia Schurmann, et al.
American Journal of Human Genetics|March 31, 2026
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiencyNatalie B Tan, Matthias Gautschi, Michael Raum, et al.
Pageof 40

Showing results (261-270 of 396) with videos related to

Sort By:
Pageof 40
European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 7, 2023
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizuresElena Poggio, Lucia Barazzuol, Andrea Salmaso, et al.
Plos One|December 16, 2014
MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathyLore Becker, Eva Kling, Evelyn Schiller, et al.
American Journal of Human Genetics|July 19, 2016
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.
BMC Medicine|April 11, 2015
Multi-omic signature of body weight change: results from a population-based cohort studySimone Wahl, Susanne Vogt, Ferdinand Stückler, et al.
Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.
Molecular Genetics and Metabolism|December 28, 2014
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communitiesMarni J Falk, Lishuang Shen, Michael Gonzalez, et al.
Plos One|April 18, 2014
Mapping the genetic architecture of gene regulation in whole bloodKatharina Schramm, Carola Marzi, Claudia Schurmann, et al.
American Journal of Human Genetics|March 31, 2026
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiencyNatalie B Tan, Matthias Gautschi, Michael Raum, et al.
Pageof 40