1. A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. Issue 1 (24th November 2017) Authors: Paakkola, T.; Vuopala, K.; Kokkonen, H.; Ignatius, J.; Valkama, M.; Moilanen, J.S.; Fahiminiya, S.; Majewski, J.; Hinttala, R.; Uusimaa, J. Journal: Clinical genetics Issue: Volume 93:Issue 1(2018) Page Start: 173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗