Copy Number Variation Study of A Cohort of 46,XY DSD Patients

Copy number variants in chromosomes 15& 16 and its contribution to phenotypic aspects in autistic children

Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion

CYTOGENETIC STUDY OF CHILDREN WITH DEVELOPMENTAL DELAY AND ASSOCIATED ANOMALIES

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

Cytogenetic and Clinical Description of Maternally Inherited Pure Trisomy 4p

Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children

PHENOTYPING CYP3A4/5 USING AN ENDOGENOUS BIOMARKER IN CHILDREN WITH DOWN SYNDROME

Clinical and cytogenetic analysis of terminal 22q13.3 deletion in two patients with ring chromosome 22

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