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

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

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

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

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

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

Clinical and Molecular Characterization of Achondroplasia in Egyptian Patients

Characterization of 42 Egyptian Children with Lysosomal Storage Disorders

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