Kolexia
Carneiro Maryline
Pédiatrie
Hôpital Femme Mère Enfant
Bron, France
56 Activités
193 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Neurofibromatoses Neurofibromatose de type 1 Encéphalopathies Épilepsie Crises épileptiques Neurofibrome Gliome du nerf optique Dyskinésies

Industries

ORCHARD THERAPEUTICS
3 collaboration(s)
Dernière en 2021
Nutricia
1 collaboration(s)
Dernière en 2022
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Dernières activités

PASTA: High Dose Steroids in Children With Stroke and Unilateral Focal Arteriopathy: A Multicentre Randomized Controlled Trial PASTA (Paediatric Arteriopathy Steroid Aspirin) Trial
Essai Clinique (Insel Gruppe AG, University Hospital Bern)   08 janvier 2024
Thrombose veineuse cérébrale de l’enfant
Journées de Neurologie de Langue Française 2023   01 avril 2023
10q26 deletion syndrome: a French cohort study
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant.
European journal of medical genetics   23 août 2021
Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention.
Journal of child neurology   28 janvier 2021
the clinical and molecular spectrum of the novel CYFIP2 -related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
variants of PACS1cause an autosomal recessive developmental and epileptic encephalopathy
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Genetics in medicine : official journal of the American College of Medical Genetics   05 novembre 2020
Deciphering the natural history of SCA7 in children.
European journal of neurology   23 juillet 2020
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Epilepsia   09 juillet 2020