1. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). Issue 10 (8th June 2009) Authors: Otto, E A; Tory, K; Attanasio, M; Zhou, W; Chaki, M; Paruchuri, Y; Wise, E L; Wolf, M T F; Utsch, B; Becker, C; Nürnberg, G; Nürnberg, P; Nayir, A; Saunier, S; Antignac, C; Hildebrandt, F Journal: Journal of medical genetics Issue: Volume 46:Issue 10(2009) Page Start: 663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome. (9th July 2013) Authors: Coussa, R G; Otto, E A; Gee, H‐Y; Arthurs, P; Ren, H; Lopez, I; Keser, V; Fu, Q; Faingold, R; Khan, A; Schwartzentruber, J; Majewski, J; Hildebrandt, F; Koenekoop, R K Journal: Clinical genetics Issue: Volume 84:Number 2(2013:Aug.) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗