Screening hot-spot exons of COL7A1 gene in Egyptian patients with dystrophic Epidermolysis Bullosa

A novel matrix metalloproteinase-2 mutation in two Egyptian siblings with Winchester syndrome

A rare mutation in an Egyptian family with Sanfilippo B syndrome

Clinical and Molecular Characterization of Achondroplasia in Egyptian Patients

Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease

Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants

Mutation analysis of the arylsulfatase B gene among Egyptian patients with Maroteaux–Lamy disorder

Clinical and Genetic Study of Exons (23, 24, 26, 27) of ABCB11 Gene in Egyptian Progressive Familial Intrahepatic Cholestasis 2 Patients

MOLECULAR BASIS OF BETA THALASSEMIA MUTATIONS IN EGYPTIAN PATIENTS

Autism spectrum disorder and achondroplasia in an Egyptian patient