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Georg F Hoffmann

Showing results (361-370 of 381) with videos related to

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Nature Genetics|December 11, 2012
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, 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.
Brain : a Journal of Neurology|May 1, 2010
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesisMichèl A Willemsen, Marcel M Verbeek, Erik-Jan Kamsteeg, et al.
American Journal of Human Genetics|May 15, 2018
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated CardiomyopathyArcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, et al.
Journal of Pediatric Gastroenterology and Nutrition|July 7, 2025
Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in GermanyDominic Lenz, Muhammad Abdulaziz, Bianca Peters, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual DisabilityYair Anikster, Tobias B Haack, Thierry Vilboux, et al.
Journal of Inherited Metabolic Disease|July 10, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registryMareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, et al.
Brain : a Journal of Neurology|October 21, 2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophySteffen Syrbe, Frederike L Harms, Elena Parrini, et al.
Annals of Clinical and Translational Neurology|May 23, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementTobias B Haack, Christopher B Jackson, Kei Murayama, et al.
Human Mutation|September 24, 2017
Molecular and clinical spectra of FBXL4 deficiencyAyman W El-Hattab, Hongzheng Dai, Mohammed Almannai, et al.
Pageof 39

Showing results (361-370 of 381) with videos related to

Sort By:
Pageof 39
Nature Genetics|December 11, 2012
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, 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.
Brain : a Journal of Neurology|May 1, 2010
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesisMichèl A Willemsen, Marcel M Verbeek, Erik-Jan Kamsteeg, et al.
American Journal of Human Genetics|May 15, 2018
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated CardiomyopathyArcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, et al.
Journal of Pediatric Gastroenterology and Nutrition|July 7, 2025
Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in GermanyDominic Lenz, Muhammad Abdulaziz, Bianca Peters, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual DisabilityYair Anikster, Tobias B Haack, Thierry Vilboux, et al.
Journal of Inherited Metabolic Disease|July 10, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registryMareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, et al.
Brain : a Journal of Neurology|October 21, 2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophySteffen Syrbe, Frederike L Harms, Elena Parrini, et al.
Annals of Clinical and Translational Neurology|May 23, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementTobias B Haack, Christopher B Jackson, Kei Murayama, et al.
Human Mutation|September 24, 2017
Molecular and clinical spectra of FBXL4 deficiencyAyman W El-Hattab, Hongzheng Dai, Mohammed Almannai, et al.
Pageof 39