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Sabine A Fuchs

Showing results (21-30 of 64) with videos related to

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Communications Biology|October 14, 2022
A comprehensive transcriptomic comparison of hepatocyte model systems improves selection of models for experimental useArif Ibrahim Ardisasmita, Imre F Schene, Indi P Joore, et al.
Iscience|January 13, 2025
Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patientsIrena J J Muffels, Richard Rodenburg, Hanneke L D Willemen, et al.
Journal of Inherited Metabolic Disease|March 5, 2025
Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment EffectsEva M M Hoytema van Konijnenburg, Joline Rohof, Gautam Kok, et al.
Iscience|March 9, 2026
Functional characterization of BAP1 mutations in genome edited cholangiocarcinoma organoids: Role in cell death and drug responsesWunan Mi, Shaojun Shi, Imre F Schene, et al.
JIMD Reports|December 21, 2018
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?Imre F Schene, Christoph G Korenke, Hidde H Huidekoper, et al.
Amino Acids|September 28, 2011
Increased concentrations of both NMDA receptor co-agonists D-serine and glycine in global ischemia: a potential novel treatment target for perinatal asphyxiaSabine A Fuchs, Cacha M P C D Peeters-Scholte, Martina M J de Barse, et al.
Wiley Interdisciplinary Reviews. Nanomedicine and Nanobiotechnology|May 26, 2025
Therapeutic Application of mRNA for Genetic DiseasesPaul J L Schürmann, Stijn P E van Breda Vriesman, Jose A Castro-Alpízar, et al.
Metabolites|May 24, 2024
Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable IsotopesNils W F Meijer, Susan Zwakenberg, Johan Gerrits, et al.
Brain Communications|November 22, 2021
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delayIrena J J Muffels, Elsa Wiame, Sabine A Fuchs, et al.
Journal of Inherited Metabolic Disease|February 17, 2026
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte DataMarit Schwantje, Rose E Maase, Eugenie Dekkers, et al.
Pageof 7

Showing results (21-30 of 64) with videos related to

Sort By:
Pageof 7
Communications Biology|October 14, 2022
A comprehensive transcriptomic comparison of hepatocyte model systems improves selection of models for experimental useArif Ibrahim Ardisasmita, Imre F Schene, Indi P Joore, et al.
Iscience|January 13, 2025
Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patientsIrena J J Muffels, Richard Rodenburg, Hanneke L D Willemen, et al.
Journal of Inherited Metabolic Disease|March 5, 2025
Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment EffectsEva M M Hoytema van Konijnenburg, Joline Rohof, Gautam Kok, et al.
Iscience|March 9, 2026
Functional characterization of BAP1 mutations in genome edited cholangiocarcinoma organoids: Role in cell death and drug responsesWunan Mi, Shaojun Shi, Imre F Schene, et al.
JIMD Reports|December 21, 2018
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?Imre F Schene, Christoph G Korenke, Hidde H Huidekoper, et al.
Amino Acids|September 28, 2011
Increased concentrations of both NMDA receptor co-agonists D-serine and glycine in global ischemia: a potential novel treatment target for perinatal asphyxiaSabine A Fuchs, Cacha M P C D Peeters-Scholte, Martina M J de Barse, et al.
Wiley Interdisciplinary Reviews. Nanomedicine and Nanobiotechnology|May 26, 2025
Therapeutic Application of mRNA for Genetic DiseasesPaul J L Schürmann, Stijn P E van Breda Vriesman, Jose A Castro-Alpízar, et al.
Metabolites|May 24, 2024
Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable IsotopesNils W F Meijer, Susan Zwakenberg, Johan Gerrits, et al.
Brain Communications|November 22, 2021
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delayIrena J J Muffels, Elsa Wiame, Sabine A Fuchs, et al.
Journal of Inherited Metabolic Disease|February 17, 2026
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte DataMarit Schwantje, Rose E Maase, Eugenie Dekkers, et al.
Pageof 7