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

by Rabah M. Shawky, Heba Salah Abd-Elkhalek, Shimaa Gad
Published 2014-01-01

Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an Egyptian patient with mild Baraitser–Winter syndrome

by Rabah M. Shawky, Heba Salah Abd-Elkhalek Elabd, Radwa Gamal
Published 2014-01-01

Selective screening in neonates suspected to have inborn errors of metabolism

by Rabah M. Shawky, Heba Salah Abd-Elkhalek, Samah Elyamani Elakhdar
Published 2015-04-01

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

by Heba S. Abd-Elkhalek, Radwa Gamal, Osama K. Zaki, Solaf M. Elsayed
Published 2016-07-01

Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable FFU syndrome

by Rabah M. Shawky, Heba Salah Abd Elkhalek, Shaimaa Gad, Shaimaa Abdelsattar Mohammad
Published 2014-07-01

Trichorhinophalangeal syndrome II, expanding the clinical spectrum

by Rabah M. Shawky, Heba Salah Abd Elkhalek, Ahmed ES Elghawaby, Shaimaa Abdelsattar Mohammad, Neveen S. Seifeldin
Published 2015-01-01

Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease

by Rabah M. Shawky, Heba Salah Abd-Elkhalek Elabd, Radwa Gamal, Shaimaa Abdelsattar Mohammad, Shaimaa Gad
Published 2014-10-01

Oral–Facial–Digital Syndrome type VI with self mutilations

by Rabah M. Shawky, Heba Salah Abd-Elkhalek Elabd, Shaimaa Gad, Radwa Gamal, Shaimaa Abdelsattar Mohammad
Published 2014-10-01

Oral-facial-digital syndrome with mesoaxial polysyndactyly, common AV canal, hirschsprung disease and sacral dysgenesis: Probably a transitional type between II, VI, variant of typ...

by Rabah M. Shawky, Heba Salah Abd Elkhalek, Marwa M. Al-Fahham, Shaimaa Abdelsattar Mohammad, Shaimaa Gad
Published 2014-07-01