Phelan–McDermid Syndrome: Expanding the Phenotype

A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma

Trials for Implementing Cost-effective Fanconi Anemia (FA) Molecular Diagnosis

Prenatal Screening of Sialic Acid-Storage Disease in Nonimmune Hydrops Fetalis

The Need for Continuous Genomic Surveillance for Early Diagnosis of Novel Virus Infection