Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation

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

Orodental abnormalities in limb malformation syndromes: A review article

Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants

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

Opalski Syndrome

GORLIN GOLTZ SYNDROME: A CASE REPORT

A subset of plasmacytoid pleomorphic adenoma showing CTNNB1::PLAG1 fusion

Genetics of Congenital Malformations of the Central Nervous System

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