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Cyril Mignot

Showing results (41-50 of 236) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 15, 2021
Tremor-like subcortical myoclonus in STXBP1 encephalopathyAnna Loussouarn, Diane Doummar, Yara Beaugendre, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|March 21, 2020
Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)Claudia M Bonardi, Cyril Mignot, Jose M Serratosa, et al.
Human Molecular Genetics|April 17, 2021
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical featuresXi Luo, Kelly Schoch, Sharayu V Jangam, et al.
HGG Advances|September 16, 2021
<i>PTPN4</i> germline variants result in aberrant neurodevelopment and growthJoanna J Chmielewska, Deepika Burkardt, Jorge Luis Granadillo, et al.
American Journal of Human Genetics|August 5, 2017
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in ChildhoodSimon Edvardson, Claudia M Nicolae, Pankaj B Agrawal, et al.
Journal of Medical Genetics|April 3, 2021
Patients with <i>KCNH1</i>-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndromeMarion Aubert Mucca, Olivier Patat, Sandra Whalen, et al.
Nature Communications|September 4, 2015
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalisElisavet Fotiou, Silvia Martin-Almedina, Michael A Simpson, et al.
Human Genetics|October 4, 2024
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesisGuillaume Cogan, Maha S Zaki, Mahmoud Issa, et al.
Neurology. Genetics|November 2, 2020
Congenital immobility and stiffness related to biallelic <i>ATAD1</i> variantsRoxane Bunod, Diane Doummar, Sandra Whalen, et al.
Nature Communications|April 28, 2019
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalisElisavet Fotiou, Silvia Martin-Almedina, Michael A Simpson, et al.
Pageof 24

Showing results (41-50 of 236) with videos related to

Sort By:
Pageof 24
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 15, 2021
Tremor-like subcortical myoclonus in STXBP1 encephalopathyAnna Loussouarn, Diane Doummar, Yara Beaugendre, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|March 21, 2020
Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)Claudia M Bonardi, Cyril Mignot, Jose M Serratosa, et al.
Human Molecular Genetics|April 17, 2021
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical featuresXi Luo, Kelly Schoch, Sharayu V Jangam, et al.
HGG Advances|September 16, 2021
<i>PTPN4</i> germline variants result in aberrant neurodevelopment and growthJoanna J Chmielewska, Deepika Burkardt, Jorge Luis Granadillo, et al.
American Journal of Human Genetics|August 5, 2017
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in ChildhoodSimon Edvardson, Claudia M Nicolae, Pankaj B Agrawal, et al.
Journal of Medical Genetics|April 3, 2021
Patients with <i>KCNH1</i>-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndromeMarion Aubert Mucca, Olivier Patat, Sandra Whalen, et al.
Nature Communications|September 4, 2015
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalisElisavet Fotiou, Silvia Martin-Almedina, Michael A Simpson, et al.
Human Genetics|October 4, 2024
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesisGuillaume Cogan, Maha S Zaki, Mahmoud Issa, et al.
Neurology. Genetics|November 2, 2020
Congenital immobility and stiffness related to biallelic <i>ATAD1</i> variantsRoxane Bunod, Diane Doummar, Sandra Whalen, et al.
Nature Communications|April 28, 2019
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalisElisavet Fotiou, Silvia Martin-Almedina, Michael A Simpson, et al.
Pageof 24