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

A rare mutation in an Egyptian family with Sanfilippo B syndrome

Clinical and Molecular Characterization of Achondroplasia in Egyptian Patients

Biochemical Diagnosis of Peroxisomal Disorders by GC/MS: Egyptian Patients with X-linked Adrenoleukodystrophy

Clinical, biochemical, and molecular characterization of an Egyptian group of patients with phenylketonuria and hyperphenylalaninemia: A pilot study

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

Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families

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

Autism spectrum disorder and achondroplasia in an Egyptian patient

MOLECULAR BASIS OF BETA THALASSEMIA MUTATIONS IN EGYPTIAN PATIENTS