Describing the Phenotypic Spectrum of Sturge Weber Syndrome in a Cohort of Children Attending the Neurology Clinic at a Tertiary Care Center

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

Autism spectrum disorder and achondroplasia in an Egyptian patient

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

Opalski Syndrome

Fragile X syndrome clinical and associated comorbidities

Neurodevelopmental Outcome in Children with Down Syndrome

Copy number variations: reliable diagnostic markers for Prader-Willi patients

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