Kolexia
Chatron Nicolas
Biologie médicale
Hôpital Louis Pradel
Bron, France
159 Activités
546 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Épilepsie Déficience intellectuelle Encéphalopathies Hémophilie A Crises épileptiques Microcéphalie Délétion de segment de chromosome Aberrations des chromosomes Malformations multiples

Industries

Roche
1 collaboration(s)
Dernière en 2022
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Dernières activités

NICAEA: Technical Feasibility of the Cell-free DNA Test for Non-invasive Cytogenetic Analysis of Early Miscarriages Versus the Gold Standard Microarray
Essai Clinique (Hospices Civils de Lyon)   15 mars 2024
Turner-Ylc: Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
Essai Clinique (CHU Strasbourg)   05 mars 2024
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
European journal of medical genetics   12 février 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
Linguo Franca: an automated framework to anonymize, translate and summarize clinical reports in HPO format
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Streamlining cytogenetics analysis of genome sequencing data: a comprehensive guide for Balanced Structural Variants
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Long read sequencing technology to overcome the challenge of regions with high sequence homology
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder - virtual
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Cas9 target enrichment and nanopore squencing to replace Southern-blot for the diagnosis of progressive mycolonic epilepsy
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia   22 décembre 2023