Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b

por Chkioua, Latifa, Amri, Yessine, Sahli, Chayma, Rhouma, Ferdawes Ben, Chehida, Amel Ben, Tebib, Neji, Messaoud, Taieb, Abdennebi, Hassen Ben, Laradi, Sandrine
Publicado 2023

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