Kolexia
Valence Stephanie Pédiatrie
Valence Stephanie
Pédiatrie
Hôpital Armand Trousseau
Paris, France
92 Activités
0 Followers
Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Épilepsie Déficience intellectuelle Encéphalopathies Ataxie Malformations du système nerveux Malformations corticales Polymicrogyrie Microcéphalie Spasmes infantiles

Collaborateurs

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Heron-Bruneau Delphine
Heron-Bruneau Delphine
Hôpital Pitie Salpetriere, Paris, France
Mignot Cyril
Mignot Cyril
Hôpital Armand Trousseau, Paris, France
Keren Boris
Keren Boris
Hôpital Pitie Salpetriere, Paris, France
Garel Catherine
Garel Catherine
Hôpital Armand Trousseau, Paris, France

Industries

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UCB
1 collaboration(s)
Dernière en 2019
Boston Scientific
1 collaboration(s)
Dernière en 2019
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Dernières activités

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Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.
Prenatal diagnosis   02 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
Further characterisation of -related disorders in females due to inherited or de novo variants.
Journal of medical genetics   25 octobre 2023
Loss-of-function variants in cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
Journal of medical genetics   19 octobre 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
American journal of human genetics   07 juillet 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
European journal of human genetics : EJHG   21 juin 2023
Spectrum of brain malformations in fetuses with mild tubulinopathy.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology   05 juin 2023
First reports of fetal SMARCC1 related hydrocephalus.
European journal of medical genetics   05 juin 2023
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Prenatal diagnosis   23 mai 2023