1. Functional and Clinical Impact of Novel Tmprss6 Variants in Iron‐Refractory Iron‐Deficiency Anemia Patients and Genotype–Phenotype Studies. Issue 11 (10th September 2014) Authors: De Falco, Luigia; Silvestri, Laura; Kannengiesser, Caroline; Morán, Erica; Oudin, Claire; Rausa, Marco; Bruno, Mariasole; Aranda, Jessica; Argiles, Bienvenida; Yenicesu, Idil; Falcon‐Rodriguez, Maria; Yilmaz‐Keskin, Ebru; Kocak, Ulker; Beaumont, Carole; Camaschella, Clara; Iolascon, Achille; Gran... Journal: Human mutation Issue: Volume 35:Issue 11(2014:Nov.) Page Start: 1321 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) ↗