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

A rare mutation in an Egyptian family with Sanfilippo B syndrome

Genetics of Congenital Malformations of the Central Nervous System

Recurrent CPLANE1 splice site variant in Oro-facial-digital syndrome OFD VI

Clinical and Molecular Genetic Characterization of Waardenburg Syndrome

Clinical and Molecular Characterization of Achondroplasia in Egyptian Patients

CYTOGENETIC STUDY OF CHILDREN WITH DEVELOPMENTAL DELAY AND ASSOCIATED ANOMALIES

Autism spectrum disorder and achondroplasia in an Egyptian patient

Genetic Study of Cleft Lip with or without Cleft Palate and Cleft Palate

Fragile X syndrome: diagnosis by molecular characterization of gene and clinical correlation