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Cyril Mignot

Showing results (91-100 of 216) with videos related to

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Neurology|January 28, 2021
<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of ChildhoodSara Zagaglia, Dora Steel, S Krithika, et al.
American Journal of Human Genetics|November 22, 2022
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanismShridhar Parthasarathy, Sarah McKeown Ruggiero, Antoinette Gelot, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2024
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephalyYue Huang, Kristy L Jay, Alden Yen-Wen Huang, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
Biological Psychiatry|January 9, 2016
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and InhibitionLoyse Hippolyte, Anne M Maillard, Borja Rodriguez-Herreros, et al.
American Journal of Medical Genetics. Part A|May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorderCaroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
Orphanet Journal of Rare Diseases|July 18, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophyHugh J McMillan, Aida Telegrafi, Amanda Singleton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2023
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7Liselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
Nutrients|September 9, 2022
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate CarrierBigna K Bölsterli, Eugen Boltshauser, Luigi Palmieri, et al.
Journal of Medical Genetics|June 14, 2012
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disabilityJulien Thevenon, Estelle Lopez, Boris Keren, et al.
Pageof 22

Showing results (91-100 of 216) with videos related to

Sort By:
Pageof 22
Neurology|January 28, 2021
<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of ChildhoodSara Zagaglia, Dora Steel, S Krithika, et al.
American Journal of Human Genetics|November 22, 2022
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanismShridhar Parthasarathy, Sarah McKeown Ruggiero, Antoinette Gelot, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2024
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephalyYue Huang, Kristy L Jay, Alden Yen-Wen Huang, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
Biological Psychiatry|January 9, 2016
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and InhibitionLoyse Hippolyte, Anne M Maillard, Borja Rodriguez-Herreros, et al.
American Journal of Medical Genetics. Part A|May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorderCaroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
Orphanet Journal of Rare Diseases|July 18, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophyHugh J McMillan, Aida Telegrafi, Amanda Singleton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2023
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7Liselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
Nutrients|September 9, 2022
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate CarrierBigna K Bölsterli, Eugen Boltshauser, Luigi Palmieri, et al.
Journal of Medical Genetics|June 14, 2012
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disabilityJulien Thevenon, Estelle Lopez, Boris Keren, et al.
Pageof 22