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Saskia B Wortmann

Showing results (61-70 of 178) with videos related to

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International Journal of Neonatal Screening|June 26, 2024
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains UnclearStella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Perinatal and early infantile symptoms in congenital disorders of glycosylationSimone Funke, Thatjana Gardeitchik, Dorus Kouwenberg, et al.
Neuropediatrics|August 17, 2018
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 PatientsReka Kovacs-Nagy, Gilles Morin, Maria Al Nouri, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 10, 2025
Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to knowOliver Heath, René G Feichtinger, Melanie T Achleitner, et al.
Orphanet Journal of Rare Diseases|April 13, 2021
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital appEva M M Hoytema van Konijnenburg, Saskia B Wortmann, Marina J Koelewijn, et al.
Pediatric Research|December 20, 2008
Mitochondrial energy production correlates with the age-related BMISaskia B Wortmann, Heidi Zweers-van Essen, Richard J T Rodenburg, et al.
Molecular Genetics and Metabolism|June 18, 2021
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defectMarisa W Friederich, Gabrielle C Geddes, Saskia B Wortmann, 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.
Journal of Neurology|October 13, 2023
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks surveyMichelangelo Mancuso, Piervito Lopriore, Costanza Lamperti, et al.
Human Molecular Genetics|October 5, 2013
The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potentialPaul M Smith, Joanna L Elson, Laura C Greaves, et al.
Pageof 18

Showing results (61-70 of 178) with videos related to

Sort By:
Pageof 18
International Journal of Neonatal Screening|June 26, 2024
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains UnclearStella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Perinatal and early infantile symptoms in congenital disorders of glycosylationSimone Funke, Thatjana Gardeitchik, Dorus Kouwenberg, et al.
Neuropediatrics|August 17, 2018
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 PatientsReka Kovacs-Nagy, Gilles Morin, Maria Al Nouri, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 10, 2025
Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to knowOliver Heath, René G Feichtinger, Melanie T Achleitner, et al.
Orphanet Journal of Rare Diseases|April 13, 2021
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital appEva M M Hoytema van Konijnenburg, Saskia B Wortmann, Marina J Koelewijn, et al.
Pediatric Research|December 20, 2008
Mitochondrial energy production correlates with the age-related BMISaskia B Wortmann, Heidi Zweers-van Essen, Richard J T Rodenburg, et al.
Molecular Genetics and Metabolism|June 18, 2021
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defectMarisa W Friederich, Gabrielle C Geddes, Saskia B Wortmann, 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.
Journal of Neurology|October 13, 2023
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks surveyMichelangelo Mancuso, Piervito Lopriore, Costanza Lamperti, et al.
Human Molecular Genetics|October 5, 2013
The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potentialPaul M Smith, Joanna L Elson, Laura C Greaves, et al.
Pageof 18