A rare mutation in an Egyptian family with Sanfilippo B syndrome

Clinical and Molecular Characterization of Achondroplasia in Egyptian Patients

Autism spectrum disorder and achondroplasia in an Egyptian patient

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

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

Hallermann-Streiff syndrome A case report from Egypt

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

Descriptive Study of the Different Phenotypes of Congenital Heart Disease in a Cohort of Egyptian Patients Diagnosed with Down Syndrome

A genetic and biochemical study of obesity in Egypt

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