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Isabelle Desguerre

Showing results (81-90 of 235) with videos related to

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Human Mutation|December 8, 2006
A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 elementManuèle Miné, Jian-Min Chen, Michèle Brivet, et al.
Brain & Development|July 1, 2008
Tumor-like enlargement of the optic chiasm in an infant with Alexander diseaseCyril Mignot, Isabelle Desguerre, Lydie Burglen, et al.
Epilepsia|March 4, 2010
Epileptic phenotypes in children with respiratory chain disordersSandra El Sabbagh, Anne-Sophie Lebre, Nadia Bahi-Buisson, et al.
European Journal of Medical Genetics|November 6, 2013
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?Giulia Barcia, Nicole Chemaly, Stephanie Gobin, et al.
Journal of Child Neurology|August 19, 2021
Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 PatientsJudith Chareyre, Antoine Neuraz, Alina Badina, et al.
European Journal of Human Genetics : EJHG|January 10, 2008
Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndromeVincent Laugel, Cecile Dalloz, Anne Stary, et al.
Neurogenetics|August 25, 2010
A FOXG1 mutation in a boy with congenital variant of Rett syndromeTangui Le Guen, Nadia Bahi-Buisson, Juliette Nectoux, et al.
European Journal of Neurology|April 13, 2023
Clinical and radiological description of 120 pediatric stroke-like episodesChloe Durrleman, David Grevent, Melodie Aubart, et al.
British Journal of Clinical Pharmacology|April 26, 2024
Optimization of vigabatrin dosage in children with epileptic spasms: A population pharmacokinetic approachAgathe Molimard, Frantz Foissac, Naïm Bouazza, et al.
Molecular Genetics and Metabolism|May 11, 2021
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutationsCharles-Joris Roux, Giulia Barcia, Manuel Schiff, et al.
Pageof 24

Showing results (81-90 of 235) with videos related to

Sort By:
Pageof 24
Human Mutation|December 8, 2006
A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 elementManuèle Miné, Jian-Min Chen, Michèle Brivet, et al.
Brain & Development|July 1, 2008
Tumor-like enlargement of the optic chiasm in an infant with Alexander diseaseCyril Mignot, Isabelle Desguerre, Lydie Burglen, et al.
Epilepsia|March 4, 2010
Epileptic phenotypes in children with respiratory chain disordersSandra El Sabbagh, Anne-Sophie Lebre, Nadia Bahi-Buisson, et al.
European Journal of Medical Genetics|November 6, 2013
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?Giulia Barcia, Nicole Chemaly, Stephanie Gobin, et al.
Journal of Child Neurology|August 19, 2021
Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 PatientsJudith Chareyre, Antoine Neuraz, Alina Badina, et al.
European Journal of Human Genetics : EJHG|January 10, 2008
Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndromeVincent Laugel, Cecile Dalloz, Anne Stary, et al.
Neurogenetics|August 25, 2010
A FOXG1 mutation in a boy with congenital variant of Rett syndromeTangui Le Guen, Nadia Bahi-Buisson, Juliette Nectoux, et al.
European Journal of Neurology|April 13, 2023
Clinical and radiological description of 120 pediatric stroke-like episodesChloe Durrleman, David Grevent, Melodie Aubart, et al.
British Journal of Clinical Pharmacology|April 26, 2024
Optimization of vigabatrin dosage in children with epileptic spasms: A population pharmacokinetic approachAgathe Molimard, Frantz Foissac, Naïm Bouazza, et al.
Molecular Genetics and Metabolism|May 11, 2021
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutationsCharles-Joris Roux, Giulia Barcia, Manuel Schiff, et al.
Pageof 24