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

A rare mutation in an Egyptian family with Sanfilippo B syndrome

Clinical and Molecular Characterization of Achondroplasia in Egyptian Patients

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

Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients

A Study of MMP-9 rs3918242 Gene Polymorphism in Egyptian Ischemic Stroke Patients

Matrix metalloproteinase-2 promotor gene polymorphism in Egyptian NHL patients

A Genetic Risk Factor in Egyptian Children with A Family History of End-Stage Renal Disease

Autism spectrum disorder and achondroplasia in an Egyptian patient

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