1. Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies. Issue 4 (9th September 2022) Authors: Daich Varela, Malena; Bellingham, James; Motta, Fabiana; Jurkute, Neringa; Ellingford, Jamie M; Quinodoz, Mathieu; Oprych, Kathryn; Niblock, Michael; Janeschitz-Kriegl, Lucas; Kaminska, Karolina; Cancellieri, Francesca; Scholl, Hendrik P N; Lenassi, Eva; Schiff, Elena; Knight, Hannah; Black, Grae... Journal: Human molecular genetics Issue: Volume 32:Issue 4(2023) Page Start: 595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Tau alternative splicing in familial and sporadic tauopathies. (20th July 2012) Authors: Niblock, Michael; Gallo, Jean-Marc Journal: Biochemical Society transactions Issue: Volume 40:Number 4(2012) Page Start: 677 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗