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Cyril Mignot

Showing results (101-110 of 216) with videos related to

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HGG Advances|August 30, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome functionGiovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, et al.
Neurology|November 6, 2015
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlationsDong-Hui Chen, Aurélie Méneret, Jennifer R Friedman, et al.
Epilepsia|June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
JAMA Neurology|February 27, 2018
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia GenesMarie Coutelier, Monia B Hammer, Giovanni Stevanin, et al.
Clinical Genetics|December 6, 2021
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosumRoseline Vibert, Cyril Mignot, Boris Keren, et al.
American Journal of Human Genetics|October 12, 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesZelha Nil, Ashish R Deshwar, Yan Huang, et al.
Pediatric Neurology|November 5, 2021
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability SyndromeJacqueline L Steele, Michelle M Morrow, Harvey B Sarnat, et al.
American Journal of Human Genetics|November 27, 2012
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIATobias B Haack, Penelope Hogarth, Michael C Kruer, et al.
American Journal of Human Genetics|January 14, 2020
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 DeficiencyDavid B Beck, Ana Petracovici, Chongsheng He, et al.
Brain : a Journal of Neurology|June 4, 2024
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalusPhan Q Duy, Bettina Jux, Shujuan Zhao, et al.
Pageof 22

Showing results (101-110 of 216) with videos related to

Sort By:
Pageof 22
HGG Advances|August 30, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome functionGiovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, et al.
Neurology|November 6, 2015
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlationsDong-Hui Chen, Aurélie Méneret, Jennifer R Friedman, et al.
Epilepsia|June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
JAMA Neurology|February 27, 2018
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia GenesMarie Coutelier, Monia B Hammer, Giovanni Stevanin, et al.
Clinical Genetics|December 6, 2021
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosumRoseline Vibert, Cyril Mignot, Boris Keren, et al.
American Journal of Human Genetics|October 12, 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesZelha Nil, Ashish R Deshwar, Yan Huang, et al.
Pediatric Neurology|November 5, 2021
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability SyndromeJacqueline L Steele, Michelle M Morrow, Harvey B Sarnat, et al.
American Journal of Human Genetics|November 27, 2012
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIATobias B Haack, Penelope Hogarth, Michael C Kruer, et al.
American Journal of Human Genetics|January 14, 2020
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 DeficiencyDavid B Beck, Ana Petracovici, Chongsheng He, et al.
Brain : a Journal of Neurology|June 4, 2024
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalusPhan Q Duy, Bettina Jux, Shujuan Zhao, et al.
Pageof 22