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Saskia B Wortmann

Showing results (21-30 of 178) with videos related to

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Neuropediatrics|August 14, 2025
Successful Lisdexamfetamine Treatment for Behavioral Arrests, Paroxysmal Nonkinesiogenic Dyskinesia, and Attention Deficits Due to a Previously Unreported KCNMA1 VariantSabine Ebner, Kajus Merkevicius, Barbara Schnell, et al.
Journal of Child Neurology|May 28, 2016
Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL SyndromeDorian Blommaert, Karen van Hulst, Frank J A van den Hoogen, et al.
Genes|December 23, 2022
A <i>TSHZ3</i> Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion SyndromeRené G Feichtinger, Martin Preisel, Katja Steinbrücker, et al.
Journal of Cell Science|October 29, 2005
Dimerization of the cytokine receptors gp130 and LIFR analysed in single cellsBernd Giese, Christoph Roderburg, Michael Sommerauer, et al.
Molecular Genetics and Metabolism|December 3, 2025
Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunityNatalia Zubarovskaya, Johannes A Mayr, Elmar Aigner, et al.
Neuropediatrics|November 24, 2020
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative DisorderChristina T Rüsch, Saskia B Wortmann, Reka Kovacs-Nagy, et al.
Stem Cell Research|January 7, 2026
Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 geneGemma Gasparini, Carolin Kraus, Ejona Rusha, et al.
The Laryngoscope|February 21, 2022
Mitochondrial Disease and Hearing Loss in Children: A Systematic ReviewSebastian Roesch, Anna O'Sullivan, Georg Zimmermann, et al.
Neuropediatrics|January 14, 2021
Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and DeathJohanna Becker, Nikolaus A Haas, Stefan Vlaho, et al.
JIMD Reports|May 8, 2023
Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire studySarah C Grünert, Annieke Venema, Jamas LaFreniere, et al.
Pageof 18

Showing results (21-30 of 178) with videos related to

Sort By:
Pageof 18
Neuropediatrics|August 14, 2025
Successful Lisdexamfetamine Treatment for Behavioral Arrests, Paroxysmal Nonkinesiogenic Dyskinesia, and Attention Deficits Due to a Previously Unreported KCNMA1 VariantSabine Ebner, Kajus Merkevicius, Barbara Schnell, et al.
Journal of Child Neurology|May 28, 2016
Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL SyndromeDorian Blommaert, Karen van Hulst, Frank J A van den Hoogen, et al.
Genes|December 23, 2022
A <i>TSHZ3</i> Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion SyndromeRené G Feichtinger, Martin Preisel, Katja Steinbrücker, et al.
Journal of Cell Science|October 29, 2005
Dimerization of the cytokine receptors gp130 and LIFR analysed in single cellsBernd Giese, Christoph Roderburg, Michael Sommerauer, et al.
Molecular Genetics and Metabolism|December 3, 2025
Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunityNatalia Zubarovskaya, Johannes A Mayr, Elmar Aigner, et al.
Neuropediatrics|November 24, 2020
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative DisorderChristina T Rüsch, Saskia B Wortmann, Reka Kovacs-Nagy, et al.
Stem Cell Research|January 7, 2026
Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 geneGemma Gasparini, Carolin Kraus, Ejona Rusha, et al.
The Laryngoscope|February 21, 2022
Mitochondrial Disease and Hearing Loss in Children: A Systematic ReviewSebastian Roesch, Anna O'Sullivan, Georg Zimmermann, et al.
Neuropediatrics|January 14, 2021
Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and DeathJohanna Becker, Nikolaus A Haas, Stefan Vlaho, et al.
JIMD Reports|May 8, 2023
Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire studySarah C Grünert, Annieke Venema, Jamas LaFreniere, et al.
Pageof 18