Amira Benzarti

Clinical and genomic characterization of corpus callosum abnormalities (CCA) in 107 Tunisian patients using a stepwise diagnostic approach

Bochra Khadija, Hamza Hadj Abdallah, Wafa Slimani, Ayda Bennour et autres

Background Corpus callosum abnormalities (CCA) represent a heterogeneous group of neurodevelopmental disorders resulting from disturbances in midline patterning, neuronal migration, and axonal guidance. Their genetic architecture includes chromosomal abnormalities, pathogenic copy-number variations (CNVs), and single-gene disorders; however, genotype–phenotype correlations remain incompletely defined, …

Tunisie, de (code pays fourni par la source)

Retrospective analysis of spinal muscular atrophy in tunisian population: phenotypic-genotypic associations and considerations for therapeutic advancement

Walid Sabri Hamadou, Abdelbasset Amara, Hamza Chouk, Saoussen Trabelsi et autres

Tunisie, sa (code pays fourni par la source)

Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights

Rim Khelifi, Houcemeddine Othmane, Houda Ajmi, Wafa Slimani et autres

BACKGROUND: Congenital heart defects represent a major global health burden, affecting nearly one million newborns annually. Identifying the underlying genetic causes is essential for improved diagnosis, patient management, and genetic counseling. PATIENTS AND METHODS: We conducted a cytogenetic study integrating conventional karyotyping, …

Tunisie, ru, kw (code pays fourni par la source)