Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome

por Kerkeni, Nesrine, Kharrat, Maher, Maazoul, Faouzi, Boudabous, Hela, M’rad, Ridha, Trabelsi, Mediha
Publicado 2022

Exploring the 7p22.1 Chromosome as a Candidate Region for Autism

por Bayou, Nadia, Belhadj, Ahlem, Daoud, Hussein, Briault, Sylvain, Helayem, M. Bechir, Chaabouni, Habiba, M'rad, Ridha
Publicado 2010

Autism throughout genetics: Perusal of the implication of ion channels

por Daghsni, Marwa, Rima, Mohamad, Fajloun, Ziad, Ronjat, Michel, Brusés, Juan L., M'rad, Ridha, De Waard, Michel
Publicado 2018

Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation

por Sassi, Hela, Meddeb, Rym, Cherif, Mohamed Aziz, Nasr, Chiraz, Riahi, Aouatef, Hannachi, Samia, Belguith, Neila, M’rad, Ridha
Publicado 2022

De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder

por Bayou, Nadia, M'rad, Ridha, Belhaj, Ahlem, Daoud, Hussein, Ben Jemaa, Lamia, Zemni, Ramzi, Briault, Sylvain, Helayem, M. Bechir, Chaabouni, Habiba
Publicado 2008

The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain

por Bayou, Nadia, M’rad, Ridha, Belhaj, Ahlem, Daoud, Hussein, Zemni, Ramzi, Briault, Sylvain, Helayem, M. Béchir, Ben Jemaa, Lamia, Chaabouni, Habiba
Publicado 2008

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

Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations

por Chikhaoui, Asma, Kraoua, Ichraf, Calmels, Nadège, Bouchoucha, Sami, Obringer, Cathy, Zayoud, Khouloud, Montagne, Benjamin, M’rad, Ridha, Abdelhak, Sonia, Laugel, Vincent, Ricchetti, Miria, Turki, Ilhem, Yacoub-Youssef, Houda
Publicado 2022

Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients

por Mighri, Najah, Hamdi, Yosr, Boujemaa, Maroua, Othman, Houcemeddine, Ben Nasr, Sonia, El Benna, Houda, Mejri, Nesrine, Labidi, Soumaya, Ayari, Jihen, Jaidene, Olfa, Bouaziz, Hanen, Ben Rekaya, Mariem, M’rad, Ridha, Haddaoui, Abderrazek, Rahal, Khaled, Boussen, Hamouda, Boubaker, Samir, Abdelhak, Sonia
Publicado 2020