Examinant per Autoria "Colobran, Roger"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease(Wiley, 2017) Franco-Jarava, Clara; Comas, David, 1969-; Orren, Ann; Hernández-González, M.; Colobran, Roger
Ítem Accés Obert eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics(Wiley, 2019) Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas Remolar, Francesc, 1992-; Rabionet Janssen, Raquel; Bezdan, Daniela; Domènech Salgado, Laura, 1989-; Hor, Hyun; Schott, Jean-Jacques; Munell, Francina; Colobran, Roger; Macaya, Alfons; Estivill, Xavier, 1955-; Ossowski, Stephan
Ítem Accés Obert FHLdb: a comprehensive database on the molecular basis of familial hemophagocytic lymphohistiocytosis(Frontiers, 2020) Viñas Giménez, Laura; Padilla, Natàlia; Batlle Masó, Laura, 1993-; Casals López, Ferran; Rivière, Jacques G.; Martínez-Gallo, Mónica; Cruz, Xavier de la; Colobran, Roger
Ítem Accés Obert LRBA deficiency in a patient with a novel homozygous mutation due to chromosome 4 segmental uniparental isodisomy(Frontiers, 2018) Soler-Palacín, Pere; Garcia Prat, Marina; Martín-Nalda, Andrea; Franco-Jarava, Clara; Rivière, Jacques G.; Plaja, Alberto; Bezdan, Daniela; Bosio, Mattia; Martínez-Gallo, Mónica; Ossowski, Stephan; Colobran, Roger