1. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. Issue 10 (24th June 2010) Authors: Dai, J; Kim, O-H; Cho, T-J; Schmidt-Rimpler, M; Tonoki, H; Takikawa, K; Haga, N; Miyoshi, K; Kitoh, H; Yoo, W-J; Choi, I-H; Song, H-R; Jin, D-K; Kim, H-T; Kamasaki, H; Bianchi, P; Grigelioniene, G; Nampoothiri, S; Minagawa, M; Miyagawa, S-i Journal: Journal of medical genetics Issue: Volume 47:Issue 10(2010) Page Start: 704 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb. Issue 6 (1st June 2009) Authors: Schuurs-Hoeijmakers, J H M; Vermeer, S; van Bon, B W M; Pfundt, R; Marcelis, C; de Brouwer, A P M; de Leeuw, N; de Vries, Bert B A Journal: Journal of medical genetics Issue: Volume 46:Issue 6(2009) Page Start: 421 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗