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. Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. Issue 4 (24th September 2009) Authors: Harville, H M; Held, S; Diaz-Font, A; Davis, E E; Diplas, B H; Lewis, R A; Borochowitz, Z U; Zhou, W; Chaki, M; MacDonald, J; Kayserili, H; Beales, P L; Katsanis, N; Otto, E; Hildebrandt, F Journal: Journal of medical genetics Issue: Volume 47:Issue 4(2010) Page Start: 262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗