1. Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact. Issue 4 (7th January 2011) Authors: Castella, Maria; Pujol, Roser; Callén, Elsa; Ramírez, Maria J; Casado, José A; Talavera, Maria; Ferro, Teresa; Muñoz, Arturo; Sevilla, Julián; Madero, Luis; Cela, Elena; Beléndez, Cristina; de Heredia, Cristina Díaz; Olivé, Teresa; de Toledo, José Sánchez; Badell, Isabel; Estella, Jesús; Dasí, Án... Journal: Journal of medical genetics Issue: Volume 48:Issue 4(2011) Page Start: 242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. Issue 4 (5th October 2019) Authors: Bogliolo, Massimo; Pujol, Roser; Aza-Carmona, Miriam; Muñoz-Subirana, Núria; Rodriguez-Santiago, Benjamin; Casado, José Antonio; Rio, Paula; Bauser, Christopher; Reina-Castillón, Judith; Lopez-Sanchez, Marcos; Gonzalez-Quereda, Lidia; Gallano, Pia; Catalá, Albert; Ruiz-Llobet, Ana; Badell, Isabel... Journal: Journal of medical genetics Issue: Volume 57:Issue 4(2020) Page Start: 258 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗