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

Clinical and Molecular Characterization of Achondroplasia in Egyptian Patients

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

Molecular and cytogenetic diagnosis of disorders/differences of sex development: molecular update of genes controlling sexual differentiation

Wolff Parkinson white Syndrome in Tangier: Prevalence, Clinical Characteristics and Outcome

Phelan–McDermid Syndrome: Expanding the Phenotype

Genetics of Congenital Malformations of the Central Nervous System

Alopecia Areata: An Overview of the Disease and its Genetic Basis: Review Article

Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification