Kolexia
Baert-Desurmont Stephanie Pharmacien
Baert-Desurmont Stephanie
Pharmacien
Hôpital Charles Nicolle
Rouen, France
59 Activités
2 Followers
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{{person.topmesh1.name}} Prédisposition génétique à une maladie Tumeurs colorectales héréditaires sans polypose Tumeurs colorectales Polypose adénomateuse colique Tumeurs du sein Syndrome de Li-Fraumeni Tumeurs de l'ovaire Carcinomes Syndromes néoplasiques héréditaires

Collaborateurs

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Frebourg Thierry
Frebourg Thierry
Hôpital Charles Nicolle, Rouen, France
Buisine Marie-Pierre
Buisine Marie-Pierre
Centre de Biologie - Pathologie, Lille, France
Kasper Edwige
Kasper Edwige
Hôpital Charles Nicolle, Rouen, France
Houdayer Claude
Houdayer Claude
Hôpital Charles Nicolle, Rouen, France

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Dernières activités

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SMAD4 mosaicism with juvenile polyposis and Rendu-Osler phenotype : a case report
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
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
Risque génétique de cancer du sein et risque extramammaire : actualités en 2022
Imagerie de la Femme   11 novembre 2023
Gene-specific ACMG/AMP classification criteria for germline APC variants: recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel.
Genetics in medicine : official journal of the American College of Medical Genetics   03 octobre 2023
Disequilibrium between BRCA1 and BRCA2 circular and messenger RNAs plays a role in breast cancer
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Disequilibrium between and Circular and Messenger RNAs Plays a Role in Breast Cancer.
Cancers   06 avril 2023
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of variants causing in-frame splicing alterations.
Journal of medical genetics   16 septembre 2022
Detecting inversions in routine molecular diagnosis
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Systematic and automated genotype-phenotype associations reassessment through ClinVar follow-up
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022