Kolexia
Barcia Giulia
Génétique médicale
Hôpital Necker Enfants Malades
Paris, France
101 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Épilepsie Encéphalopathies Maladies mitochondriales Déficience intellectuelle Crises épileptiques Prédisposition génétique à une maladie Spasmes infantiles Atrophie Épilepsies myocloniques

Industries

Eisai
3 collaboration(s)
Dernière en 2019
{{person.topindus2.name}}
{{person.topindus2.tot}} collaboration(s)
Dernière en {{person.topindus2.last}}
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
American journal of human genetics   18 juillet 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Science translational medicine   31 mai 2023
Clinical and radiological description of 120 pediatric stroke-like episodes.
European journal of neurology   10 mai 2023
MITODIAG: A French network of diagnostic laboratories for mitochondrial diseases
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genetics in medicine : official journal of the American College of Medical Genetics   13 avril 2023
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
Life (Basel, Switzerland)   04 février 2023
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genetics in medicine : official journal of the American College of Medical Genetics   29 octobre 2022
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
American journal of human genetics   30 août 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain : a journal of neurology   30 août 2022