1. Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy. (October 2020) Authors: Al-Hassnan, Zuhair N.; Almesned, Abdulrahman; Tulbah, Sahar; Alakhfash, Ali; Alhadeq, Faten; Alruwaili, Nadiah; Alkorashy, Maarab; Alhashem, Amal; Alrashdan, Ahmad; Faqeih, Eissa; Alkhalifi, Salwa M.; Al humaidi, Zainab; Sogaty, Sameera; Azhari, Nawal; Bakhaider, Abdulrahman M.; Al asmari, Ali; A... Journal: Circulation Issue: Volume 13:Number 5(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency. Issue 2 (8th January 2022) Authors: Jiang, Huafang; Alahmad, Ahmad; Fu, Song; Fu, Xiaoling; Liu, Zhimei; Han, Xiaodi; Li, Lanlan; Song, Tianyu; Xu, Manting; Liu, Shanshan; Wang, Junling; Albash, Buthaina; Alaqeel, Ahmad; Catalina, Vasilescu; Prokisch, Holger; Taylor, Robert W.; McFarland, Robert; Fang, Fang Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 2(2022) Page Start: 264 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. LYRM7‐associated mitochondrial complex III deficiency with non‐cavitating leukoencephalopathy and stroke‐like episodes. Issue 5 (9th February 2023) Authors: Alfattal, Rita; Alfarhan, Maryam; Algaith, Adeeb M.; Albash, Buthaina; Elshafie, Reem M.; Alshammari, Asma; Alahmad, Ahmad; Dashti, Fatima; Alsafi, Rasha; Alsharhan, Hind Journal: American journal of medical genetics Issue: Volume 191:Issue 5(2023) Page Start: 1401 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing. Issue 10 (18th June 2019) Authors: Saoura, Makenzie; Powell, Christopher A.; Kopajtich, Robert; Alahmad, Ahmad; AL‐Balool, Haya H.; Albash, Buthaina; Alfadhel, Majid; Alston, Charlotte L.; Bertini, Enrico; Bonnen, Penelope E.; Bratkovic, Drago; Carrozzo, Rosalba; Donati, Maria A.; Di Nottia, Michela; Ghezzi, Daniele; Goldstein, Am... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1731 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗