1. Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I. Issue 11 (24th September 2020) Authors: Alahmad, Ahmad; Nasca, Alessia; Heidler, Juliana; Thompson, Kyle; Oláhová, Monika; Legati, Andrea; Lamantea, Eleonora; Meisterknecht, Jana; Spagnolo, Manuela; He, Langping; Alameer, Seham; Hakami, Fahad; Almehdar, Abeer; Ardissone, Anna; Alston, Charlotte L; McFarland, Robert; Wittig, Ilka; Ghezz... Journal: EMBO molecular medicine Issue: Volume 12:Issue 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene. Issue 5 (30th May 2019) Authors: Alrajhi, Hamdan; Alallah, Jubara; Shawli, Aiman; Alghamdi, Khalid; Hakami, Fahad Journal: BMJ case reports Issue: Volume 12:Issue 5(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder. (28th March 2016) Authors: Hakami, Fahad; Dillon, Mitchell W.; Lebo, Matthew; Mason‐Suares, Heather Journal: Prenatal diagnosis Issue: Volume 36:Number 5(2016) Page Start: 418 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The role of HOX genes in head and neck squamous cell carcinoma. (14th December 2015) Authors: Platais, Christopher; Hakami, Fahad; Darda, Lav; Lambert, Daniel W.; Morgan, Richard; Hunter, Keith D. Journal: Journal of oral pathology & medicine Issue: Volume 45:Number 4(2016) Page Start: 239 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗