Kolexia
Charles Perrine Neurologie
Charles Perrine
Neurologie
Hôpital Pitie Salpetriere
Paris, France
177 Activités
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{{person.topmesh1.name}} Ataxie Déficience intellectuelle Ataxie cérébelleuse Ataxies spinocérébelleuses Maladie de Huntington Prédisposition génétique à une maladie Paraplégie Spasticité musculaire Épilepsie

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Durr Alexandra
Durr Alexandra
Hôpital Pitie Salpetriere, Paris, France
Brice Alexis
Brice Alexis
Hôpital Pitie Salpetriere, Paris, France
Keren Boris
Keren Boris
Hôpital Pitie Salpetriere, Paris, France
Heron-Bruneau Delphine
Heron-Bruneau Delphine
Hôpital Pitie Salpetriere, Paris, France

Industries

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Lysogene
1 collaboration(s)
Dernière en 2021
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Dernières activités

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Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 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
Al Kaissi syndrome : a novel cohort of 15 patients with biallelic variations in the CDK10 gene : functional analysis, phenotypic description and review of the literature
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
ZIC1 variants in neurodevelopmental disorder with and without craniosynostosis
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
EBioMedicine   26 décembre 2023
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Human genetics   20 décembre 2023
A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.
Genes   29 novembre 2023
Further characterisation of -related disorders in females due to inherited or de novo variants.
Journal of medical 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
Causes Mild Intellectual Disability Followed by Late-Onset Ataxia.
Neurology. Genetics   19 octobre 2023