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Holger Prokisch

Showing results (271-280 of 396) with videos related to

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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.
Molecular Metabolism|July 14, 2026
Biallelic TXNIP deficiency is associated with a multisystemic metabolic diseaseJulia-Josefine Scholz, Sharlaine Y L Piel, Ioannis Evangelakos, et al.
Plos Genetics|December 3, 2010
Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid ACarola Marzi, Eva Albrecht, Pirro G Hysi, et al.
Plos One|December 14, 2012
Analyzing illumina gene expression microarray data from different tissues: methodological aspects of data analysis in the metaxpress consortiumClaudia Schurmann, Katharina Heim, Arne Schillert, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in DystoniaUgo Sorrentino, Martin Pavlov, Nazanin Mirza-Schreiber, et al.
JAMA Neurology|April 11, 2017
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial MyopathyEwen W Sommerville, Yi Shiau Ng, Charlotte L Alston, et al.
Neuropediatrics|June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic SpectrumBader Alhaddad, Anna Schossig, Tobias B Haack, et al.
Journal of Inherited Metabolic Disease|April 15, 2015
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutationsMartina Huemer, Daniela Karall, Anna Schossig, et al.
Pageof 40

Showing results (271-280 of 396) with videos related to

Sort By:
Pageof 40
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.
Molecular Metabolism|July 14, 2026
Biallelic TXNIP deficiency is associated with a multisystemic metabolic diseaseJulia-Josefine Scholz, Sharlaine Y L Piel, Ioannis Evangelakos, et al.
Plos Genetics|December 3, 2010
Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid ACarola Marzi, Eva Albrecht, Pirro G Hysi, et al.
Plos One|December 14, 2012
Analyzing illumina gene expression microarray data from different tissues: methodological aspects of data analysis in the metaxpress consortiumClaudia Schurmann, Katharina Heim, Arne Schillert, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in DystoniaUgo Sorrentino, Martin Pavlov, Nazanin Mirza-Schreiber, et al.
JAMA Neurology|April 11, 2017
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial MyopathyEwen W Sommerville, Yi Shiau Ng, Charlotte L Alston, et al.
Neuropediatrics|June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic SpectrumBader Alhaddad, Anna Schossig, Tobias B Haack, et al.
Journal of Inherited Metabolic Disease|April 15, 2015
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutationsMartina Huemer, Daniela Karall, Anna Schossig, et al.
Pageof 40