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Mathieu Milh

Showing results (111-120 of 138) with videos related to

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Epilepsia|October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 casesChloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.
American Journal of Human Genetics|July 5, 2014
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of lifeJulien Thevenon, Mathieu Milh, François Feillet, et al.
Annals of Neurology|June 21, 2023
GluK2 Is a Target for Gene Therapy in Drug-Resistant Temporal Lobe EpilepsyCéline Boileau, Severine Deforges, Angélique Peret, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, et al.
Pediatric Research|September 24, 2025
Early motor outcomes in infants with complex congenital heart disease: the predictive role of NSE and S100BNarjess Boutalbi, Samuel Dahan, William Rozalen, et al.
Neurology|January 4, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> EncephalopathyEvelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, et al.
Epilepsia|July 10, 2020
Defining the phenotype of FHF1 developmental and epileptic encephalopathyMarina Trivisano, Alessandro Ferretti, Elizabeth Bebin, et al.
Epilepsia|June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
Pageof 14

Showing results (111-120 of 138) with videos related to

Sort By:
Pageof 14
Epilepsia|October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 casesChloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.
American Journal of Human Genetics|July 5, 2014
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of lifeJulien Thevenon, Mathieu Milh, François Feillet, et al.
Annals of Neurology|June 21, 2023
GluK2 Is a Target for Gene Therapy in Drug-Resistant Temporal Lobe EpilepsyCéline Boileau, Severine Deforges, Angélique Peret, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, et al.
Pediatric Research|September 24, 2025
Early motor outcomes in infants with complex congenital heart disease: the predictive role of NSE and S100BNarjess Boutalbi, Samuel Dahan, William Rozalen, et al.
Neurology|January 4, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> EncephalopathyEvelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, et al.
Epilepsia|July 10, 2020
Defining the phenotype of FHF1 developmental and epileptic encephalopathyMarina Trivisano, Alessandro Ferretti, Elizabeth Bebin, et al.
Epilepsia|June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
Pageof 14