Randa Alkhalaf

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

Muhammad Umair, M. Alfadhel, F. Al Mutairi, 2020, BMC Pulmonary Medicine.

MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database

M. Alfadhel, A. Alfares, W. Eyaid, 2020, Annals of human genetics.