Kolexia
Mignot Cyril Pédiatrie
Mignot Cyril
Pédiatrie
Hôpital Armand Trousseau
Paris, France
282 Activités
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Scientifique
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{{person.topmesh1.name}} Déficience intellectuelle Épilepsie Encéphalopathies Prédisposition génétique à une maladie Crises épileptiques Ataxie Microcéphalie Délétion de segment de chromosome Ataxie cérébelleuse

Collaborateurs

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Keren Boris
Keren Boris
Hôpital Pitie Salpetriere, Paris, France
Heron-Bruneau Delphine
Heron-Bruneau Delphine
Hôpital Pitie Salpetriere, Paris, France
Nava Caroline
Nava Caroline
Hôpital Pitie Salpetriere, Paris, France
Afenjar Alexandra
Afenjar Alexandra
Hôpital Armand Trousseau, Paris, France

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Eisai
1 collaboration(s)
Dernière en 2018
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Dernières activités

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3q29 duplications: A cohort of 46 patients and a literature review.
American journal of medical genetics. Part A   29 février 2024
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clinical genetics   29 février 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genetics in medicine : official journal of the American College of Medical Genetics   27 janvier 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
medRxiv : the preprint server for health sciences   09 janvier 2024
IMPROVE: Creation of a Register of Patients With Neonatal-onset Epileptic Encephalopathy
Essai Clinique (Assistance publique - Hôpitaux de Marseille)   05 janvier 2024
OMIXCARE: OMICS technologiessolved about 33% of the patientswith heterogeneous rareneuro-developmental disordersand negative exome sequencingresults and identified 13%additional candidate variants
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Loss of function variants in ZEB1 cause dominant agenesis of the corpus callosum with incomplete penetrance
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Prenatal exome sequencing in corpus callosum anomalies: lessons from a cohort of 209 fetuses
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Biallelic variants in ITFG2, a subunit of the KICSTOR complex, affect mTOR signaling pathway and lead to a syndromic neurodevelopmental disorder
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024