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  2. 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; Diaz-Heredia, Cristina; Hladun, Raquel; Senent, Leonort; Argiles, Bienvenida; Bergua Burgues, Juan Miguel; Bañez, Fatima; Arrizabalaga, Beatriz; López Almaraz, Ricardo; Lopez, Monica; [...]

    Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

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    BMJ, 2020

    Published in: Journal of Medical Genetics