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B Wortmann

Showing results (171-180 of 205) with videos related to

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Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
Journal of Inherited Metabolic Disease|May 3, 2026
Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World StudySema Kalkan Uçar, Neslihan Önenli Mungan, Gülden Fatma Gökçay, et al.
Molecular Genetics and Metabolism|January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiencyJames J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.
American Journal of Human Genetics|January 20, 2015
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderSaskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, et al.
American Journal of Human Genetics|September 26, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesRené G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al.
Neurology. Genetics|April 15, 2024
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <i>HK1</i> VariantsSaskia B Wortmann, Rene G Feichtinger, Lucia Abela, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
Human Mutation|October 15, 2013
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseasesKornelia Neveling, Ilse Feenstra, Christian Gilissen, et al.
Nature Genetics|June 12, 2012
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafnessSaskia B Wortmann, Frédéric M Vaz, Thatjana Gardeitchik, et al.
Pageof 21

Showing results (171-180 of 205) with videos related to

Sort By:
Pageof 21
Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
Journal of Inherited Metabolic Disease|May 3, 2026
Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World StudySema Kalkan Uçar, Neslihan Önenli Mungan, Gülden Fatma Gökçay, et al.
Molecular Genetics and Metabolism|January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiencyJames J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.
American Journal of Human Genetics|January 20, 2015
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderSaskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, et al.
American Journal of Human Genetics|September 26, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesRené G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al.
Neurology. Genetics|April 15, 2024
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <i>HK1</i> VariantsSaskia B Wortmann, Rene G Feichtinger, Lucia Abela, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2020
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1Dominic Lenz, Desirée E C Smith, Ellen Crushell, et al.
Human Mutation|October 15, 2013
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseasesKornelia Neveling, Ilse Feenstra, Christian Gilissen, et al.
Nature Genetics|June 12, 2012
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafnessSaskia B Wortmann, Frédéric M Vaz, Thatjana Gardeitchik, et al.
Pageof 21