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Mathieu Milh

Showing results (101-110 of 138) with videos related to

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Pediatric Neurology|July 4, 2025
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 IndividualsMeghane Durizot, Lydie Burglen, Catherine Garel, et al.
European Journal of Medical Genetics|January 29, 2022
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsiesLionel Arnaud, Marie-Thérèse Abi Warde, Giulia Barcia, et al.
Prenatal Diagnosis|May 13, 2023
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotypeToan Nguyen, Solveig Heide, Lucie Guilbaud, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathiesStéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, et al.
Frontiers in Pediatrics|April 10, 2023
Impact of cardiac surgical timing on the neurodevelopmental outcomes of newborns with Complex congenital heart disease (CHD)Marien Lenoir, Thibault Beretti, Benoit Testud, et al.
Epilepsia|April 27, 2019
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizuresJulien Denis, Nathalie Villeneuve, Pierre Cacciagli, et al.
Nature Genetics|October 5, 2010
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesSabine Endele, Georg Rosenberger, Kirsten Geider, et al.
Epilepsia|November 23, 2024
Effectiveness of sodium channel blockers in treating neonatal seizures due to arterial ischemic strokeVeronica Pegoraro, Renaud Viellevoye, Geneviève Malfilatre, et al.
Orphanet Journal of Rare Diseases|May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Epilepsia|April 3, 2016
Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in FranceMathilde Chipaux, William Szurhaj, Laurent Vercueil, et al.
Pageof 14

Showing results (101-110 of 138) with videos related to

Sort By:
Pageof 14
Pediatric Neurology|July 4, 2025
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 IndividualsMeghane Durizot, Lydie Burglen, Catherine Garel, et al.
European Journal of Medical Genetics|January 29, 2022
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsiesLionel Arnaud, Marie-Thérèse Abi Warde, Giulia Barcia, et al.
Prenatal Diagnosis|May 13, 2023
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotypeToan Nguyen, Solveig Heide, Lucie Guilbaud, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathiesStéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, et al.
Frontiers in Pediatrics|April 10, 2023
Impact of cardiac surgical timing on the neurodevelopmental outcomes of newborns with Complex congenital heart disease (CHD)Marien Lenoir, Thibault Beretti, Benoit Testud, et al.
Epilepsia|April 27, 2019
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizuresJulien Denis, Nathalie Villeneuve, Pierre Cacciagli, et al.
Nature Genetics|October 5, 2010
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesSabine Endele, Georg Rosenberger, Kirsten Geider, et al.
Epilepsia|November 23, 2024
Effectiveness of sodium channel blockers in treating neonatal seizures due to arterial ischemic strokeVeronica Pegoraro, Renaud Viellevoye, Geneviève Malfilatre, et al.
Orphanet Journal of Rare Diseases|May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Epilepsia|April 3, 2016
Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in FranceMathilde Chipaux, William Szurhaj, Laurent Vercueil, et al.
Pageof 14