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Cyril Mignot

Showing results (21-30 of 236) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|February 19, 2009
Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase geneDiane Doummar, Fabienne Clot, Marie Vidailhet, et al.
Journal of Neuropathology and Experimental Neurology|February 12, 2016
Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase DeficiencyNathalie Pirot, Marie Crahes, Homa Adle-Biassette, et al.
Orphanet Journal of Rare Diseases|May 1, 2016
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPDSylvie Picker-Minh, Cyril Mignot, Diane Doummar, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 14, 2019
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3Pascal Sabouraud, Audrey Riquet, Marie-Aude Spitz, et al.
Cold Spring Harbor Molecular Case Studies|May 22, 2021
Neurodevelopmental phenotypes in individuals with pathogenic variants in <i>CHAMP1</i>Madison Garrity, Haluk Kavus, Marta Rojas-Vasquez, 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.
European Journal of Medical Genetics|February 3, 2015
DYRK1A mutations in two unrelated patientsLyse Ruaud, Cyril Mignot, Agnès Guët, et al.
European Journal of Medical Genetics|June 12, 2012
Retinal involvement in two unrelated patients with Myhre syndromeEssam Al Ageeli, Cyril Mignot, Alexandra Afenjar, et al.
American Journal of Medical Genetics. Part A|January 12, 2020
Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathyFarah Kanani, Hannah Titheradge, Nicola Cooper, et al.
Brain & Development|March 24, 2010
A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patientsIchraf Kraoua, Frédéric Sedel, Catherine Caillaud, et al.
Pageof 24

Showing results (21-30 of 236) with videos related to

Sort By:
Pageof 24
Movement Disorders : Official Journal of the Movement Disorder Society|February 19, 2009
Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase geneDiane Doummar, Fabienne Clot, Marie Vidailhet, et al.
Journal of Neuropathology and Experimental Neurology|February 12, 2016
Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase DeficiencyNathalie Pirot, Marie Crahes, Homa Adle-Biassette, et al.
Orphanet Journal of Rare Diseases|May 1, 2016
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPDSylvie Picker-Minh, Cyril Mignot, Diane Doummar, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 14, 2019
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3Pascal Sabouraud, Audrey Riquet, Marie-Aude Spitz, et al.
Cold Spring Harbor Molecular Case Studies|May 22, 2021
Neurodevelopmental phenotypes in individuals with pathogenic variants in <i>CHAMP1</i>Madison Garrity, Haluk Kavus, Marta Rojas-Vasquez, 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.
European Journal of Medical Genetics|February 3, 2015
DYRK1A mutations in two unrelated patientsLyse Ruaud, Cyril Mignot, Agnès Guët, et al.
European Journal of Medical Genetics|June 12, 2012
Retinal involvement in two unrelated patients with Myhre syndromeEssam Al Ageeli, Cyril Mignot, Alexandra Afenjar, et al.
American Journal of Medical Genetics. Part A|January 12, 2020
Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathyFarah Kanani, Hannah Titheradge, Nicola Cooper, et al.
Brain & Development|March 24, 2010
A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patientsIchraf Kraoua, Frédéric Sedel, Catherine Caillaud, et al.
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