Kolexia
Afenjar Alexandra Pédiatrie
Afenjar Alexandra
Pédiatrie
Hôpital Armand Trousseau
Paris, France
190 Activités
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Scientifique
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{{person.topmesh1.name}} Déficience intellectuelle Épilepsie Encéphalopathies Malformations multiples Prédisposition génétique à une maladie Ataxie Microcéphalie Mégalencéphalie Faciès

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
Mignot Cyril
Mignot Cyril
Hôpital Armand Trousseau, Paris, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France

Industries

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UCB
1 collaboration(s)
Dernière en 2018
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Dernières activités

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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
OXR1 maintains the retromer to delay brain aging under dietary restriction.
Nature communications   11 janvier 2024
Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.
Prenatal diagnosis   02 janvier 2024
Biallelic variants in INTS11 are associated with a novel complex neurological disorder
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 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
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
The Journal of clinical investigation   14 novembre 2023
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
American journal of human genetics   25 octobre 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
European journal of human genetics : EJHG   23 octobre 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
American journal of human genetics   11 octobre 2023