Heba Salah Abd-Elkhalek

Glutaric aciduria type 1: neuroimaging features with clinical correlation

Oral-facial-digital syndrome type II: Transitional type between Mohr and Varadi

Intrafamilial variability in Simpson–Golabi–Behmel syndrome with bilateral posterior ear lobule creases

Trigonocephaly and Dandy walker variant in an Egyptian child - Probable mild Opitz trigonocephaly C syndrome

Nonketotic hyperglycinemia: spectrum of imaging findings with emphasis on diffusion-weighted imaging

Selective screening in neonates suspected to have inborn errors of metabolism

Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities

Familial Peters Plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss: Expanding the clinical spectrum

Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin patches

Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders