Autism spectrum disorder and achondroplasia in an Egyptian patient

Professor Samia Temtamy: the founder of human genetics at the National Research Centre, Egypt

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

Case of autosomal-recessive spinal muscular atrophy with respiratory distress type 1 caused by compound heterozygous mutations in immunoglobulin-binding protein 2 gene: expansion

Cytokine profile in a cohort of Egyptian patients with autism spectrum disorders

Biochemical evaluations at two time points in 15 patients with nephropathic cystinosis under cysteamine treatment

Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study