1. Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families. (7th February 2013) Authors: Storkanova, G; Vlaskova, H; Chuzhanova, N; Zeman, J; Stranecky, V; Majer, F; Peskova, K; Luksan, O; Jirsa, M; Hrebicek, M; Dvorakova, L Journal: Clinical genetics Issue: Volume 84:Number 6(2013:Dec.) Page Start: 552 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. Issue 7 (13th May 2009) Authors: Spurlock, G; Bennett, E; Chuzhanova, N; Thomas, N; Jim, H-Ping; Side, L; Davies, S; Haan, E; Kerr, B; Huson, S M; Upadhyaya, M Journal: Journal of medical genetics Issue: Volume 46:Issue 7(2009) Page Start: 431 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗