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Matias Wagner

Showing results (51-60 of 188) with videos related to

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Human Genomics|August 27, 2023
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genesSara Silvaieh, Theresa König, Raphael Wurm, 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 Genetics|February 25, 2023
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlationKatharina J Weiss, Ursula Berger, Maliha Haider, 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.
International Journal of Molecular Sciences|August 7, 2021
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRSFrederik Braun, Andreas Hentschel, Albert Sickmann, et al.
Molecular Genetics and Metabolism|March 10, 2026
Transaldolase deficiency - natural disease course towards adulthoodViktoria Bea Horvath, Konstantinos Tsiakas, Heiko Brennenstuhl, et al.
American Journal of Human Genetics|May 26, 2026
Guidance on communication and informed consent with patients and their families for experimental individualized treatmentsAnnemieke Aartsma-Rus, Claudio M de Gusmao, Scott Demarest, et al.
Kidney International Reports|July 18, 2025
Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic DataMatthias Christoph Braunisch, Clara M Großewinkelmann, Martin Menke, et al.
Human Mutation|December 21, 2020
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significanceSarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, et al.
The Journal of Pediatrics|July 7, 2024
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular PhenotypesErica Sanford Kobayashi, Nava Shaul Lotan, Yael Dinur Schejter, et al.
Pageof 19

Showing results (51-60 of 188) with videos related to

Sort By:
Pageof 19
Human Genomics|August 27, 2023
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genesSara Silvaieh, Theresa König, Raphael Wurm, 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 Genetics|February 25, 2023
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlationKatharina J Weiss, Ursula Berger, Maliha Haider, 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.
International Journal of Molecular Sciences|August 7, 2021
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRSFrederik Braun, Andreas Hentschel, Albert Sickmann, et al.
Molecular Genetics and Metabolism|March 10, 2026
Transaldolase deficiency - natural disease course towards adulthoodViktoria Bea Horvath, Konstantinos Tsiakas, Heiko Brennenstuhl, et al.
American Journal of Human Genetics|May 26, 2026
Guidance on communication and informed consent with patients and their families for experimental individualized treatmentsAnnemieke Aartsma-Rus, Claudio M de Gusmao, Scott Demarest, et al.
Kidney International Reports|July 18, 2025
Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic DataMatthias Christoph Braunisch, Clara M Großewinkelmann, Martin Menke, et al.
Human Mutation|December 21, 2020
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significanceSarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, et al.
The Journal of Pediatrics|July 7, 2024
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular PhenotypesErica Sanford Kobayashi, Nava Shaul Lotan, Yael Dinur Schejter, et al.
Pageof 19