Kolexia
Rodriguez-Levi Diana
Pédiatrie
Hôpital Armand Trousseau
Paris, France
147 Activités
0 Followers

Scientifique
Digital
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Neurofibromatoses Neurofibromatose de type 1 Ataxie Déficience intellectuelle Encéphalopathies Leucoencéphalopathies Malformations du système nerveux Maladies démyélinisantes héréditaires du système nerveux central Neurofibrome

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UCB
1 collaboration(s)
Dernière en 2018
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Dernières activités

Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.
Prenatal diagnosis   02 janvier 2024
Role of RBP4 in eye development: 7 novel families with ocular malformations and literature review
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
American journal of human genetics   25 octobre 2023
Clinical, genetic and biochemical signatures of -related ocular malformations.
Journal of medical genetics   16 août 2023
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.
AJNR. American journal of neuroradiology   23 février 2023
Gain-of-function variants in the ion channel gene underlie a spectrum of neurodevelopmental disorders.
eLife   17 janvier 2023
New insights into -related Joubert syndrome.
Journal of medical genetics   01 novembre 2022
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Brain : a journal of neurology   25 octobre 2022
Additional evidence for the vascular disruption defect hypothesis in a novel case of brainstem disconnection syndrome.
Birth defects research   09 octobre 2022
Quantification of monoamine biomarkers in cerebrospinal fluid: Comparison of a UHPLC-MS/MS method with a UHPLC coupled to fluorescence detection method.
Biomedical chromatography : BMC   20 septembre 2022