Kolexia
Charbonnier Françoise Pharmacien
Charbonnier Françoise
Pharmacien
Pharmacie Charbonnier
Guérande, France
32 Activités
0 Followers
Scientifique
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{{person.topmesh1.name}} Prédisposition génétique à une maladie Tumeurs colorectales Cardiopathies congénitales Tumeurs colorectales héréditaires sans polypose Cardiopathies Carcinome corticosurrénalien Chondrosarcome Tumeurs osseuses Anasarque foetoplacentaire

Collaborateurs

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Frebourg Thierry
Frebourg Thierry
Hôpital Charles Nicolle, Rouen, France
Baert-Desurmont Stephanie
Baert-Desurmont Stephanie
Hôpital Charles Nicolle, Rouen, France
Kasper Edwige
Kasper Edwige
Hôpital Charles Nicolle, Rouen, France
Tinat Julie
Tinat Julie
Hôpital Pellegrin, Bordeaux, France

Industries

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Weleda S.A.
1 collaboration(s)
Dernière en 2018
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Dernières activités

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SEALigHTS: An innovative, high throughput targeted technique to study messenger RNAs and circular RNAs
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
SOPHRO CARE: Impact of Sophrology on Exercise Capacity of Adolescents and Young Adults With Congenital Heart Disease : Multicenter Randomized Controlled Trial
Essai Clinique (CHU Montpellier)   02 octobre 2023
Facebook
Facebook   08 septembre 2023
Screening for genetic modifying factors in Li-Fraumeni and heritable TP53 -related cancer syndromes
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples.
Clinical chemistry   12 mai 2021
Development of a rapid functional assay on peripheral blood for clinical interpretation of germline TP53 variants and detection of non-coding functional variants
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
and molecular description of 202 cases of Cornelia de Lange Syndrome and differential diagnoses
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Blood functional assay for rapid clinical interpretation of germline variants.
Journal of medical genetics   13 octobre 2020
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
European journal of human genetics : EJHG   26 juin 2020
Impact of Sophrology on cardiopulmonary fitness in teenagers and young adults with a congenital heart disease: The SOPHROCARE study rationale, design and methods.
International journal of cardiology. Heart & vasculature   03 mars 2020