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Brigitte Chabrol

Showing results (141-150 of 147) with videos related to

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Human Mutation|January 7, 2010
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype studyMarjan E Steenweg, Cornelis Jakobs, Abdellatif Errami, et al.
Journal of Inherited Metabolic Disease|April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationStefan Kölker, Angeles Garcia-Cazorla, Angeles Garcia Cazorla, et al.
Journal of Inherited Metabolic Disease|June 17, 2015
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotypeStefan Kölker, Vassili Valayannopoulos, Alberto B Burlina, et al.
Journal of Inherited Metabolic Disease|April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotypeStefan Kölker, Vassili Valayannopoulos, Alberto B Burlina, et al.
Journal of Inherited Metabolic Disease|February 19, 2019
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registryMartina Huemer, Daria Diodato, Diego Martinelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesMehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
Neurology|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and OutcomeFlorence Riccardi, Béatrice Desnous, Emilie Borloz, et al.
Pageof 15

Showing results (141-150 of 147) with videos related to

Sort By:
Pageof 15
You have reached the last page of results.This site can display upto 147 results.
Human Mutation|January 7, 2010
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype studyMarjan E Steenweg, Cornelis Jakobs, Abdellatif Errami, et al.
Journal of Inherited Metabolic Disease|April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationStefan Kölker, Angeles Garcia-Cazorla, Angeles Garcia Cazorla, et al.
Journal of Inherited Metabolic Disease|June 17, 2015
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotypeStefan Kölker, Vassili Valayannopoulos, Alberto B Burlina, et al.
Journal of Inherited Metabolic Disease|April 16, 2015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotypeStefan Kölker, Vassili Valayannopoulos, Alberto B Burlina, et al.
Journal of Inherited Metabolic Disease|February 19, 2019
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registryMartina Huemer, Daria Diodato, Diego Martinelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesMehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
Neurology|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and OutcomeFlorence Riccardi, Béatrice Desnous, Emilie Borloz, et al.
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