Kolexia
Dussardier Brigitte
Génétique médicale
Hôpital La Miletrie
Poitiers, France
135 Activités
5 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Télangiectasie hémorragique héréditaire Télangiectasie Syndrome CHARGE Malformations multiples Prédisposition génétique à une maladie Délétion de segment de chromosome Syndrome de Williams Épistaxis

Industries

Sanofi
1 collaboration(s)
Dernière en 2022
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Dernières activités

Biallelic variants in INTS11 are associated with a novel complex neurological disorder
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Molecular psychiatry   29 novembre 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
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
European journal of human genetics : EJHG   23 octobre 2023
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
American journal of human genetics   25 septembre 2023
Efficacy and safety of intravenous bevacizumab on severe bleeding associated with hemorrhagic hereditary telangiectasia: A national, randomized multicenter trial.
Journal of internal medicine   23 août 2023
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
NPJ genomic medicine   24 mai 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
American journal of human genetics   12 avril 2023
Postzygotic Breakages of Dicentric Chromosomes: A Rare Mechanism of Terminal Deletions.
Cytogenetic and genome research   08 décembre 2022
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Clinical genetics   01 décembre 2022