Kolexia
Roux-Buisson Nathalie
Biologie médicale
Hôpital Nord Grenoble
La Tronche, France
48 Activités
6 Followers

Scientifique
Digital
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{{person.topmesh1.name}} Tachycardie ventriculaire Hyperthermie Hyperthermie maligne Tachycardie Troubles du rythme cardiaque Prédisposition génétique à une maladie Cardiomyopathies Mort subite cardiaque Rhabdomyolyse

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Dernières activités

Hyperthermie maligne de l’anesthésie
Anesthésie & Réanimation   01 mars 2023
Journée Rhabdomyolyse - 2 décembre 2022 (matin)
Youtube @ Filière G2M   18 janvier 2023
ALPK3 gene in cardiomyopathies: Which phenotypes? Which mode of inheritance?
JESFC 2023   01 janvier 2023
Characterization of Loss-Of-Function Mutations in Atypical Andersen Tawil Syndrome.
Frontiers in genetics   25 novembre 2021
Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycardia secondary to calmodulin p.Asn98Ser.
European heart journal. Case reports   05 octobre 2021
A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response.
Journal of personalized medicine   20 juin 2021
Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.
Frontiers in immunology   05 mars 2021
Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.
Clinical and experimental immunology   12 octobre 2020
Variations in the TRPV1 gene are associated to exertional heat stroke.
Journal of science and medicine in sport   18 mai 2020
International Triadin Knockout Syndrome Registry.
Circulation. Genomic and precision medicine   06 avril 2020