Kolexia
Ader Flavie
Pharmacien
Hôpital Pitie Salpetriere
Paris, France
64 Activités
36 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Cardiomyopathies Cardiomyopathie hypertrophique Cardiomyopathie dilatée Troubles du rythme cardiaque Prédisposition génétique à une maladie Défaillance cardiaque Tachycardie ventriculaire Mort subite cardiaque Maladies musculaires

Industries

Roche
2 collaboration(s)
Dernière en 2020
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Dernières activités

Long-Term Arrhythmic Follow-Up and Risk Stratification of Patients With Desmoplakin-Associated Arrhythmogenic Right Ventricular Cardiomyopathy
JACC advances   01 mars 2024
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Clinical genetics   14 février 2024
The Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.
Biomedicines   30 janvier 2024
Prevalence and Significance of Rare Genetic Variants in in Inherited Cardiac Diseases.
Circulation. Genomic and precision medicine   23 janvier 2024
Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying BAG3 V468M mutation in its BAG domain.
Stem cell research   21 décembre 2023
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Circulation. Genomic and precision medicine   07 décembre 2023
DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis.
Clinical genetics   30 octobre 2023
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation   24 juillet 2023
Morphological and genetic causes of fetal cardiomyopathies.
Clinical genetics   20 mai 2023
Abnormal Cellular Phenotypes Induced by Three /LAP2 Variants Identified in Men with Cardiomyopathies.
Cells   16 janvier 2023