1. Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype. Issue 4 (24th November 2022) Authors: Al Tuwaijri, Abeer; Alyafee, Yusra; Umair, Muhammad; Alsubait, Arwa; Alharbi, Mashael; AlEidi, Hamad; Ballow, Mariam; Aldrees, Mohammed; Alam, Qamre; Al Abdulrahman, Abdulkareem; Alrifai, Muhammad Talal; Alfadhel, Majid Journal: Molecular genetics & genomic medicine Issue: Volume 11:Issue 4(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans. (27th March 2017) Authors: Kim, Sharon; Twigg, Stephen R.F.; Scanlon, Victoria A.; Chandra, Aditi; Hansen, Tyler J.; Alsubait, Arwa; Fenwick, Aimee L.; McGowan, Simon J.; Lord, Helen; Lester, Tracy; Sweeney, Elizabeth; Weber, Astrid; Cox, Helen; Wilkie, Andrew O.M.; Golden, Andy; Corsi, Ann K. Journal: Human molecular genetics Issue: Volume 26:Number 11(2017:Jun. 01) Page Start: 2118 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗