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Cyril Goizet

Showing results (61-70 of 173) with videos related to

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Neuro-Oncology|February 7, 2018
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosisCamille Louvrier, Eric Pasmant, Audrey Briand-Suleau, et al.
Journal of Medical Genetics|January 29, 2013
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadismHussein Daoud, Martine Tétreault, William Gibson, et al.
European Journal of Human Genetics : EJHG|March 3, 2024
Upstream open reading frame-introducing variants in patients with primary familial brain calcificationAnne Rovelet-Lecrux, Antoine Bonnevalle, Olivier Quenez, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|August 28, 2023
Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA)Sarah Courtois, Chloé Angelini, Christelle M Durand, et al.
Human Mutation|March 17, 2004
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in FranceGaëtan Lesca, Henri Plauchu, Florence Coulet, et al.
Human Mutation|May 18, 2006
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patientsGaëtan Lesca, Nelly Burnichon, Grégory Raux, et al.
European Journal of Human Genetics : EJHG|May 7, 2021
Evidence of mosaicism in SPAST variant carriers in four French familiesChloé Angelini, Cyril Goizet, Samia Ait Said, et al.
Epilepsia|June 18, 2025
GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical featuresMarie Adamo-Croux, Chloé Angelini, Jérôme Aupy, et al.
Human Molecular Genetics|November 15, 2011
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-AAurelie Carabalona, Shirley Beguin, Emilie Pallesi-Pocachard, et al.
Molecular Genetics & Genomic Medicine|June 27, 2020
Rare variants in the GABA<sub>A</sub> receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypesFenja Markus, Chloé Angelini, Aurelien Trimouille, et al.
Pageof 18

Showing results (61-70 of 173) with videos related to

Sort By:
Pageof 18
Neuro-Oncology|February 7, 2018
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosisCamille Louvrier, Eric Pasmant, Audrey Briand-Suleau, et al.
Journal of Medical Genetics|January 29, 2013
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadismHussein Daoud, Martine Tétreault, William Gibson, et al.
European Journal of Human Genetics : EJHG|March 3, 2024
Upstream open reading frame-introducing variants in patients with primary familial brain calcificationAnne Rovelet-Lecrux, Antoine Bonnevalle, Olivier Quenez, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|August 28, 2023
Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA)Sarah Courtois, Chloé Angelini, Christelle M Durand, et al.
Human Mutation|March 17, 2004
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in FranceGaëtan Lesca, Henri Plauchu, Florence Coulet, et al.
Human Mutation|May 18, 2006
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patientsGaëtan Lesca, Nelly Burnichon, Grégory Raux, et al.
European Journal of Human Genetics : EJHG|May 7, 2021
Evidence of mosaicism in SPAST variant carriers in four French familiesChloé Angelini, Cyril Goizet, Samia Ait Said, et al.
Epilepsia|June 18, 2025
GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical featuresMarie Adamo-Croux, Chloé Angelini, Jérôme Aupy, et al.
Human Molecular Genetics|November 15, 2011
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-AAurelie Carabalona, Shirley Beguin, Emilie Pallesi-Pocachard, et al.
Molecular Genetics & Genomic Medicine|June 27, 2020
Rare variants in the GABA<sub>A</sub> receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypesFenja Markus, Chloé Angelini, Aurelien Trimouille, et al.
Pageof 18