dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Roy, Noemi |
dc.contributor.author | Da Costa, Lydie |
dc.contributor.author | Russo, Roberta |
dc.contributor.author | Bianchi, Paola |
dc.contributor.author | Mañu Pereira, M Mar |
dc.contributor.author | Fermo, Elisa |
dc.date.accessioned | 2022-09-09T08:48:05Z |
dc.date.available | 2022-09-09T08:48:05Z |
dc.date.issued | 2022-08 |
dc.identifier.citation | Roy NBA, Da Costa L, Russo R, Bianchi P, Mañú-Pereira MDM, Fermo E, et al. The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*. Br J Haematol. 2022 Aug;198(3):459–77. |
dc.identifier.issn | 2572-9241 |
dc.identifier.uri | https://hdl.handle.net/11351/8102 |
dc.description | Next-generation sequencing; Rare anemia |
dc.language.iso | eng |
dc.publisher | Wiley |
dc.relation.ispartofseries | British Journal of Haematology;198(3) |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ |
dc.source | Scientia |
dc.subject | Anèmia - Diagnòstic |
dc.subject | Malalties rares - Diagnòstic |
dc.subject | Seqüència de nucleòtids |
dc.subject.mesh | Anemia |
dc.subject.mesh | /diagnosis |
dc.subject.mesh | High-Throughput Nucleotide Sequencing |
dc.subject.mesh | Rare Diseases |
dc.title | The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper |
dc.type | info:eu-repo/semantics/article |
dc.identifier.dl | 000805480600001 |
dc.identifier.doi | 10.1111/bjh.18191 |
dc.subject.decs | anemia |
dc.subject.decs | /diagnóstico |
dc.subject.decs | secuenciación de nucleótidos de alto rendimiento |
dc.subject.decs | enfermedades raras |
dc.relation.publishversion | https://doi.org/10.1111/bjh.18191 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Roy NBA] Department of Haematology, Oxford University Hospitals, NHS Foundation Trust, Oxford, UK. NIHR BRC Blood Theme, Oxford, UK. [Da Costa L] Hôpital Universitaire Robert Debré, Paris, France. [Russo R] Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy. CEINGE Biotecnologie Avanzate, Naples, Italy. [Bianchi P, Fermo E] UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milano, Milan, Italy. [Mañú-Pereira MDM] Grup de Recerca Translacional en Trastorns d'Anèmia Rara, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain |
dc.identifier.pmid | 35661144 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |