1. Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination. (17th October 2019) Authors: Chelban, V.; Alsagob, M.; Kloth, K.; Chirita‐Emandi, A.; Vandrovcova, J.; Maroofian, R.; Davagnanam, I.; Bakhtiari, S.; AlSayed, M. D.; Rahbeeni, Z.; AlZaidan, H.; Malintan, N. T.; Johannsen, J.; Efthymiou, S.; Ghayoor Karimiani, E.; Mankad, K.; Al‐Shahrani, S. A.; Beiraghi Toosi, M.; AlShammari,... Journal: European journal of neurology Issue: Volume 27:Number 2(2020) Page Start: 334 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies. Issue 6 (3rd September 2018) Authors: Patel, N.; Alkuraya, H.; Alzahrani, S.S.; Nowailaty, S.R.; Seidahmed, M.Z.; Alhemidan, A.; Ben‐Omran, T.; Ghazi, N.G.; Al‐Aqeel, A.; Al‐Owain, M.; Alzaidan, H.I.; Faqeih, E.; Kurdi, W.; Rahbeeni, Z.; Ibrahim, N.; Abdulwahab, F.; Hashem, M.; Shaheen, R.; Abouelhoda, M.; Monies, D. Journal: Clinical genetics Issue: Volume 94:Issue 6(2018) Page Start: 554 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗