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

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

Mutational Screening of (CLN6), (CLN7) and (CLN14) Genes in Egyptian Patients with Neuronal Ceroid Lipofuscinosis.

A rare mutation in an Egyptian family with Sanfilippo B syndrome

Clinical and Molecular Characterization of Achondroplasia in Egyptian Patients

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

Autism spectrum disorder and achondroplasia in an Egyptian patient

A novel frameshift mutation of in an Egyptian patient with autosomal recessive dystrophic epidermolysis bullosa

A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma

Clinical and Molecular Study of Exons [10-14] of ABCB11 Gene in PFIC2 Patients in Egypt