F. Al-Hakami

A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene

H. Algahtani, B. Shirah, M. Al-Qahtani, 2019, Seizure.

Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort

A. Pastore, F. Alkuraya, A. Mahmoud, 2020, Genetics in Medicine.

Expanding the clinical and genetic spectra of NKX6‐2‐related disorder

K. Kandaswamy, P. Bauer, A. Bertoli-Avella, 2018, Clinical genetics.

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability

P. Bauer, F. Al-Mulla, A. Bertoli-Avella, 2018, European Journal of Human Genetics.