Autism spectrum disorder and achondroplasia in an Egyptian patient

Clinical, radiological and molecular studies of Egyptianchildren with achondroplasia

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

Hallermann-Streiff syndrome A case report from Egypt

Clinical Characterization of 53 Egyptian children diagnosed as Duchenne Muscular Dystrophy in tertiary unit in upper Egypt

Craniofacial Anthropometry in Roberts Syndrome in a Sample of Egyptians

Molecular analysis among a group of Egyptian Duchenne muscular dystrophy patients using real-time PCR

Fanconi Anemia in Egyptian Children: High Consanguinity, Congenital Anomalies, and Bone Marrow Failure in a Tertiary Center Cohort

Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort

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