Kolexia
Poirsier Celine
Génétique médicale
Maison Blanche
Reims, France
45 Activités
90 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Microcéphalie Malformations multiples Épilepsie Déficience intellectuelle Maladies génétiques congénitales Hypotonie musculaire Naevomatose basocellulaire Hypogonadisme Monosomie

Industries

Janssen
1 collaboration(s)
Dernière en 2021
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Dernières activités

3q29 duplications: A cohort of 46 patients and a literature review.
American journal of medical genetics. Part A   29 février 2024
Optical Genome Mapping. Contribution to the Etiological Diagnosis of Developmental disorders : experience of the Nantes Genetic Department on over 60 individuals
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Further characterisation of -related disorders in females due to inherited or de novo variants.
Journal of medical genetics   25 octobre 2023
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.
European journal of medical genetics   14 septembre 2023
Syndrome de Koolen de Vries
HAS Publications   15 juin 2023
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Prenatal diagnosis   23 mai 2023
Update on the phenotype of symptomatic females with ARX pathogenic variants, including 9 new patients
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
-related disorder: phenotypic and molecular spectrum.
Journal of medical genetics   25 avril 2023
Délétion 10q26
HAS Publications   12 décembre 2022
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
American journal of medical genetics. Part A   11 novembre 2022