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B Wortmann

Showing results (101-110 of 205) with videos related to

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Journal of Inherited Metabolic Disease|January 8, 2024
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessmentTerry G J Derks, Annieke Venema, Clara Köller, et al.
Molecular Genetics and Metabolism|November 27, 2024
Ketogenic diet in adult patients with mitochondrial myopathyHeidi E E Zweers, Sophie H Kroesen, Gijsje Beerlink, et al.
European Journal of Human Genetics : EJHG|December 30, 2010
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathyPaulien Smits, Ann Saada, Saskia B Wortmann, et al.
Journal of Inherited Metabolic Disease|October 12, 2014
High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disordersSebastian Franik, Hidde H Huidekoper, Gepke Visser, et al.
European Journal of Human Genetics : EJHG|May 1, 2014
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsG Herma Renkema, Saskia B Wortmann, Roel J Smeets, et al.
Journal of the Neurological Sciences|January 25, 2013
A novel mutation in COQ2 leading to fatal infantile multisystem diseaseBernadette S Jakobs, Lambert P van den Heuvel, Roel J P Smeets, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 26, 2022
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initiallyAdela Della Marina, Annikki Bertolini, Andreas Wegener-Panzer, et al.
European Journal of Medical Genetics|July 12, 2012
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?Saskia B Wortmann, Michael P Champion, Lambert van den Heuvel, et al.
Frontiers in Endocrinology|July 17, 2023
Investigating the role of ASCC1 in the causation of bone fragilityBarbara Voraberger, Johannes A Mayr, Nadja Fratzl-Zelman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 22, 2020
The role of clinical response to treatment in determining pathogenicity of genomic variantsJoseph J Shen, Saskia B Wortmann, Lonneke de Boer, et al.
Pageof 21

Showing results (101-110 of 205) with videos related to

Sort By:
Pageof 21
Journal of Inherited Metabolic Disease|January 8, 2024
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessmentTerry G J Derks, Annieke Venema, Clara Köller, et al.
Molecular Genetics and Metabolism|November 27, 2024
Ketogenic diet in adult patients with mitochondrial myopathyHeidi E E Zweers, Sophie H Kroesen, Gijsje Beerlink, et al.
European Journal of Human Genetics : EJHG|December 30, 2010
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathyPaulien Smits, Ann Saada, Saskia B Wortmann, et al.
Journal of Inherited Metabolic Disease|October 12, 2014
High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disordersSebastian Franik, Hidde H Huidekoper, Gepke Visser, et al.
European Journal of Human Genetics : EJHG|May 1, 2014
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsG Herma Renkema, Saskia B Wortmann, Roel J Smeets, et al.
Journal of the Neurological Sciences|January 25, 2013
A novel mutation in COQ2 leading to fatal infantile multisystem diseaseBernadette S Jakobs, Lambert P van den Heuvel, Roel J P Smeets, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 26, 2022
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initiallyAdela Della Marina, Annikki Bertolini, Andreas Wegener-Panzer, et al.
European Journal of Medical Genetics|July 12, 2012
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?Saskia B Wortmann, Michael P Champion, Lambert van den Heuvel, et al.
Frontiers in Endocrinology|July 17, 2023
Investigating the role of ASCC1 in the causation of bone fragilityBarbara Voraberger, Johannes A Mayr, Nadja Fratzl-Zelman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 22, 2020
The role of clinical response to treatment in determining pathogenicity of genomic variantsJoseph J Shen, Saskia B Wortmann, Lonneke de Boer, et al.
Pageof 21