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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorRoy, Noemi
dc.contributor.authorDa Costa, Lydie
dc.contributor.authorRusso, Roberta
dc.contributor.authorBianchi, Paola
dc.contributor.authorMañu Pereira, M Mar
dc.contributor.authorFermo, Elisa
dc.date.accessioned2022-09-09T08:48:05Z
dc.date.available2022-09-09T08:48:05Z
dc.date.issued2022-08
dc.identifier.citationRoy 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.issn2572-9241
dc.identifier.urihttps://hdl.handle.net/11351/8102
dc.descriptionSecuenciación de nueva generación; Anemia rara
dc.language.isoeng
dc.publisherWiley
dc.relation.ispartofseriesBritish Journal of Haematology;198(3)
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.sourceScientia
dc.subjectAnèmia - Diagnòstic
dc.subjectMalalties rares - Diagnòstic
dc.subjectSeqüència de nucleòtids
dc.subject.meshAnemia
dc.subject.mesh/diagnosis
dc.subject.meshHigh-Throughput Nucleotide Sequencing
dc.subject.meshRare Diseases
dc.titleThe use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper
dc.typeinfo:eu-repo/semantics/article
dc.identifier.dl000805480600001
dc.identifier.doi10.1111/bjh.18191
dc.subject.decsanemia
dc.subject.decs/diagnóstico
dc.subject.decssecuenciación de nucleótidos de alto rendimiento
dc.subject.decsenfermedades raras
dc.relation.publishversionhttps://doi.org/10.1111/bjh.18191
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut 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.pmid35661144
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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