Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy

por Zaffran, Stéphane, Kraoua, Lilia, Jaouadi, Hager
Publicado 2023

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant as...

por Kraoua, Lilia, Jaouadi, Hager, Allouche, Mohamed, Achour, Ahlem, Kaouther, Hakim, Ahmed, Habib Ben, Chaker, Lilia, Maazoul, Faouzi, Ouarda, Fatma, Zaffran, Stéphane, M'rad, Ridha
Publicado 2022

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome

por Dupont, Celine, Bucourt, Martine, Guimiot, Fabien, Kraoua, Lilia, Smiljkovski, Daniel, Le Tessier, Dominique, Lebugle, Camille, Gerard, Benedicte, Spaggiari, Emmanuel, Bourdoncle, Pierre, Tabet, Anne-Claude, Benzacken, Brigitte, Dupont, Jean-Michel
Publicado 2014

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

por Jaouadi, Hager, Chehida, Amel Ben, Kraoua, Lilia, Etchevers, Heather C., Argiro, Laurent, Kasdallah, Nadia, Blibech, Sonia, Delague, Valérie, Lévy, Nicolas, Tebib, Néji, Mrad, Ridha, Abdelhak, Sonia, Benkhalifa, Rym, Zaffran, Stéphane
Publicado 2019