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Thomas Meitinger

Showing results (91-100 of 508) with videos related to

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American Journal of Medical Genetics. Part A|October 4, 2025
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental DisordersTheresa Brunet, Michael Zech, Ulrich A Schatz, et al.
Journal of Genetics|January 12, 2018
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genesMuhammad Umair, Heide Seidel, Ishtiaq Ahmed, et al.
Proteomics|November 19, 2005
Proteome analysis of mitochondrial outer membrane from Neurospora crassaSimone Schmitt, Holger Prokisch, Tilman Schlunck, et al.
Journal of Inherited Metabolic Disease|May 7, 2019
Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial diseaseMatias Wagner, Riccardo Berutti, Bettina Lorenz-Depiereux, et al.
Clinical Chemistry and Laboratory Medicine|March 13, 2009
Do common genetic variants in endotoxin signaling pathway contribute to predisposition to alcoholic liver cirrhosis?Jan Petrásek, Jaroslav A Hubácek, Felix Stickel, et al.
Neurogenetics|March 24, 2015
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathyFelix Distelmaier, Tobias B Haack, Claudia B Catarino, et al.
Neuropediatrics|March 28, 2024
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years AgoMaureen Jacob, Melanie Brugger, Stephanie Andres, et al.
Statistics in Medicine|July 20, 2010
How to link call rate and p-values for Hardy-Weinberg equilibrium as measures of genome-wide SNP data qualityHelmut Finner, Klaus Strassburger, Iris M Heid, et al.
Plos One|April 29, 2020
A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoterStefan Coassin, Natascha Hermann-Kleiter, Margot Haun, et al.
Neurogenetics|February 10, 2015
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalitiesFabian Baertling, Tobias B Haack, Richard J Rodenburg, et al.
Pageof 51

Showing results (91-100 of 508) with videos related to

Sort By:
Pageof 51
American Journal of Medical Genetics. Part A|October 4, 2025
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental DisordersTheresa Brunet, Michael Zech, Ulrich A Schatz, et al.
Journal of Genetics|January 12, 2018
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genesMuhammad Umair, Heide Seidel, Ishtiaq Ahmed, et al.
Proteomics|November 19, 2005
Proteome analysis of mitochondrial outer membrane from Neurospora crassaSimone Schmitt, Holger Prokisch, Tilman Schlunck, et al.
Journal of Inherited Metabolic Disease|May 7, 2019
Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial diseaseMatias Wagner, Riccardo Berutti, Bettina Lorenz-Depiereux, et al.
Clinical Chemistry and Laboratory Medicine|March 13, 2009
Do common genetic variants in endotoxin signaling pathway contribute to predisposition to alcoholic liver cirrhosis?Jan Petrásek, Jaroslav A Hubácek, Felix Stickel, et al.
Neurogenetics|March 24, 2015
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathyFelix Distelmaier, Tobias B Haack, Claudia B Catarino, et al.
Neuropediatrics|March 28, 2024
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years AgoMaureen Jacob, Melanie Brugger, Stephanie Andres, et al.
Statistics in Medicine|July 20, 2010
How to link call rate and p-values for Hardy-Weinberg equilibrium as measures of genome-wide SNP data qualityHelmut Finner, Klaus Strassburger, Iris M Heid, et al.
Plos One|April 29, 2020
A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoterStefan Coassin, Natascha Hermann-Kleiter, Margot Haun, et al.
Neurogenetics|February 10, 2015
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalitiesFabian Baertling, Tobias B Haack, Richard J Rodenburg, et al.
Pageof 51