1. Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes. Issue 7 (15th April 2008) Authors: Monfort, S; Roselló, M; Orellana, C; Oltra, S; Blesa, D; Kok, K; Ferrer, I; Cigudosa, J C; Martínez, F Journal: Journal of medical genetics Issue: Volume 45:Issue 7(2008) Page Start: 432 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum. Issue 3 (29th February 2008) Authors: Orellana, C; Bernabeu, J; Monfort, S; Roselló, M; Oltra, S; Ferrer, I; Quiroga, R; Martínez-Garay, I; Martínez, F Journal: Journal of medical genetics Issue: Volume 45:Issue 3(2008) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗