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Saskia Wortmann

Showing results (1-10 of 22) with videos related to

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Neuropediatrics|March 7, 2025
Advancing Precision Therapies in Neurogenetic Disorders and the Treatment of Medically Refractory EpilepsiesIngo Borggraefe, Saskia Wortmann
Neuropediatrics|January 17, 2025
Introducing a New Editor-in-Chief and Thanks to Reviewers and AuthorsIngo Borggraefe, Saskia Wortmann
Acta Dermato-Venereologica|November 1, 2021
History of Repeated Bleeding from Intact Skin and Mucous Membranes: A QuizSaskia Wortmann, Tobias Welponer, Martin Laimer
Journal of Mother and Child|November 12, 2020
The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic eraWolfgang Sperl, Saskia Wortmann, René G Feichtinger, et al.
Neurology|February 17, 2021
Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase DeficiencyKarthik Muthusamy, Suzanne Boyer, Marc Patterson, et al.
Journal of Inherited Metabolic Disease|May 4, 2018
Severe ichthyosis in MPDU1-CDGChristian Thiel, Saskia Wortmann, Korbinian Riedhammer, et al.
Neuropediatrics|July 21, 2023
Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency SyndromeLoes A van Gemert, Nens van Alfen, Lizzy van Gaal, et al.
Laryngo- Rhino- Otologie|December 11, 2020
[Molecular and functional testing in case of hereditary hearing loss associated with the SLC26A4 gene]Sebastian Roesch, Emanuele Bernardinelli, Saskia Wortmann, 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.
Journal of Pediatric Endocrinology & Metabolism : JPEM|November 12, 2020
ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysisTamara Žigman, Katarina Šikić, Danijela Petković Ramadža, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Neuropediatrics|March 7, 2025
Advancing Precision Therapies in Neurogenetic Disorders and the Treatment of Medically Refractory EpilepsiesIngo Borggraefe, Saskia Wortmann
Neuropediatrics|January 17, 2025
Introducing a New Editor-in-Chief and Thanks to Reviewers and AuthorsIngo Borggraefe, Saskia Wortmann
Acta Dermato-Venereologica|November 1, 2021
History of Repeated Bleeding from Intact Skin and Mucous Membranes: A QuizSaskia Wortmann, Tobias Welponer, Martin Laimer
Journal of Mother and Child|November 12, 2020
The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic eraWolfgang Sperl, Saskia Wortmann, René G Feichtinger, et al.
Neurology|February 17, 2021
Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase DeficiencyKarthik Muthusamy, Suzanne Boyer, Marc Patterson, et al.
Journal of Inherited Metabolic Disease|May 4, 2018
Severe ichthyosis in MPDU1-CDGChristian Thiel, Saskia Wortmann, Korbinian Riedhammer, et al.
Neuropediatrics|July 21, 2023
Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency SyndromeLoes A van Gemert, Nens van Alfen, Lizzy van Gaal, et al.
Laryngo- Rhino- Otologie|December 11, 2020
[Molecular and functional testing in case of hereditary hearing loss associated with the SLC26A4 gene]Sebastian Roesch, Emanuele Bernardinelli, Saskia Wortmann, 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.
Journal of Pediatric Endocrinology & Metabolism : JPEM|November 12, 2020
ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysisTamara Žigman, Katarina Šikić, Danijela Petković Ramadža, et al.
Pageof 3