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Cyril Mignot

Showing results (31-40 of 236) with videos related to

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Clinical Genetics|December 29, 2019
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 geneCamille Desprairies, Stéphanie Valence, Hélène Maurey, et al.
Brain & Development|April 7, 2007
Early neurological phenotype in 4 children with biallelic PRODH mutationsAlexandra Afenjar, Marie-Laure Moutard, Diane Doummar, et al.
American Journal of Medical Genetics. Part A|June 10, 2017
Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletionsMarie-Laure Mathieu, Caroline Demily, Sandra Chantot-Bastaraud, et al.
Experimental Cell Research|July 3, 2007
Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander diseaseCyril Mignot, Cécile Delarasse, Séverine Escaich, et al.
Epilepsia|July 19, 2011
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patientsCyril Mignot, Marie-Laure Moutard, Oriane Trouillard, et al.
Blood|December 6, 2012
Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher diseaseMelanie Franco, Emmanuel Collec, Philippe Connes, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 26, 2021
SCN1A-related epilepsy with recessive inheritance: Two further familiesRaffaella Moretti, Lionel Arnaud, Delphine Bouteiller, et al.
Human Mutation|February 18, 2021
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorderLeïla Ghesh, Thomas Besnard, Mathilde Nizon, et al.
Thyroid : Official Journal of the American Thyroid Association|March 25, 2020
Two Novel Cases of Resistance to Thyroid Hormone Due to <i>THRA</i> MutationAlbane le Maire, Natacha Bouhours-Nouet, Jessica Soamalala, et al.
Neurobiology of Disease|December 18, 2019
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migrationKévin Duarte, Solveig Heide, Sandrine Poëa-Guyon, et al.
Pageof 24

Showing results (31-40 of 236) with videos related to

Sort By:
Pageof 24
Clinical Genetics|December 29, 2019
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 geneCamille Desprairies, Stéphanie Valence, Hélène Maurey, et al.
Brain & Development|April 7, 2007
Early neurological phenotype in 4 children with biallelic PRODH mutationsAlexandra Afenjar, Marie-Laure Moutard, Diane Doummar, et al.
American Journal of Medical Genetics. Part A|June 10, 2017
Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletionsMarie-Laure Mathieu, Caroline Demily, Sandra Chantot-Bastaraud, et al.
Experimental Cell Research|July 3, 2007
Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander diseaseCyril Mignot, Cécile Delarasse, Séverine Escaich, et al.
Epilepsia|July 19, 2011
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patientsCyril Mignot, Marie-Laure Moutard, Oriane Trouillard, et al.
Blood|December 6, 2012
Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher diseaseMelanie Franco, Emmanuel Collec, Philippe Connes, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 26, 2021
SCN1A-related epilepsy with recessive inheritance: Two further familiesRaffaella Moretti, Lionel Arnaud, Delphine Bouteiller, et al.
Human Mutation|February 18, 2021
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorderLeïla Ghesh, Thomas Besnard, Mathilde Nizon, et al.
Thyroid : Official Journal of the American Thyroid Association|March 25, 2020
Two Novel Cases of Resistance to Thyroid Hormone Due to <i>THRA</i> MutationAlbane le Maire, Natacha Bouhours-Nouet, Jessica Soamalala, et al.
Neurobiology of Disease|December 18, 2019
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migrationKévin Duarte, Solveig Heide, Sandrine Poëa-Guyon, et al.
Pageof 24