Kolexia
Vincent-Delorme Catherine
Génétique médicale
Centre Hospitalier de Arras
Arras, France
107 Activités
2 Followers

Scientifique
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Délétion de segment de chromosome Prédisposition génétique à une maladie Troubles de la croissance Microcéphalie Malformations oculaires Cardiopathies congénitales Épilepsie

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Dernières activités

MOSAÏQUE: Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. National Multicentre Descriptive Study.
Essai Clinique (CHU Dijon-Bourgogne)   20 février 2024
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
The Journal of clinical investigation   15 février 2024
Novel Genetic and Phenotypic Expansion in Ameliorated -Related Disorders.
International journal of molecular sciences   08 février 2024
DISSEQ – Double-blind exome and large gene panel sequencing analyses in the first-line diagnosis of 330 patients with intellectual disability (ID): ES superiority for the identification of CNV, variants in new disease-causing genes, and new candidate genes, as well as the advantage of possible prospective reanalysis
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Human genetics   20 décembre 2023
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
American journal of medical genetics. Part A   16 novembre 2023
Parenting stress and needs for social support in mothers and fathers of deaf or hard of hearing children.
Frontiers in psychology   30 août 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clinical genetics   14 août 2023
Loss-of-function variants in cause a syndromic neurodevelopmental disorder.
medRxiv : the preprint server for health sciences   16 juin 2023
Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.
European journal of human genetics : EJHG   13 mai 2023