1. A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. Issue 7 (1st July 2003) Authors: Ruf, R G; Berkman, J; Wolf, M T F; Nurnberg, P; Gattas, M; Ruf, E-M; Hyland, V; Kromberg, J; Glass, I; Macmillan, J; Otto, E; Nurnberg, G; Lucke, B; Hennies, H C; Hildebrandt, F Journal: Journal of medical genetics Issue: Volume 40:Issue 7(2003) Page Start: 515 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing. Issue 1 (December 2015) Authors: Bachmann-Gagescu, R; Dempsey, J; Phelps, IG; Isabella, C; O'Day, D; O'Roak, B; Shendure, J; Glass, I; Doherty, D Journal: Cilia Issue: Volume 4:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗