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Cyril Mignot

Showing results (81-90 of 216) with videos related to

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Brain : a Journal of Neurology|December 14, 2018
GRIN2A-related disorders: genotype and functional consequence predict phenotypeVincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, et al.
European Journal of Human Genetics : EJHG|May 30, 2020
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesiaDiane Doummar, Christel Dentel, Romane Lyautey, et al.
Nature Communications|May 17, 2020
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activityLaure Asselin, José Rivera Alvarez, Solveig Heide, 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.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
GM3 synthase deficiency in non-Amish patientsSolveig Heide, Marie-Line Jacquemont, David Cheillan, 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|April 30, 2023
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorderKathleen Rooney, Liselot van der Laan, Slavica Trajkova, et al.
The Journal of Pediatrics|March 13, 2017
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual DisabilitySolveig Heide, Boris Keren, Thierry Billette de Villemeur, 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.
Pageof 22

Showing results (81-90 of 216) with videos related to

Sort By:
Pageof 22
Brain : a Journal of Neurology|December 14, 2018
GRIN2A-related disorders: genotype and functional consequence predict phenotypeVincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, et al.
European Journal of Human Genetics : EJHG|May 30, 2020
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesiaDiane Doummar, Christel Dentel, Romane Lyautey, et al.
Nature Communications|May 17, 2020
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activityLaure Asselin, José Rivera Alvarez, Solveig Heide, 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.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
GM3 synthase deficiency in non-Amish patientsSolveig Heide, Marie-Line Jacquemont, David Cheillan, 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|April 30, 2023
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorderKathleen Rooney, Liselot van der Laan, Slavica Trajkova, et al.
The Journal of Pediatrics|March 13, 2017
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual DisabilitySolveig Heide, Boris Keren, Thierry Billette de Villemeur, 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.
Pageof 22