dc.contributor
Institut Català de la Salut
dc.contributor
[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.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
2025-10-24T08:55:49Z
dc.date.available
2025-10-24T08:55:49Z
dc.date.issued
2022-09-09T08:48:05Z
dc.date.issued
2022-09-09T08:48:05Z
dc.identifier
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
https://hdl.handle.net/11351/8102
dc.identifier
000805480600001
dc.identifier
10.1111/bjh.18191
dc.identifier.uri
http://hdl.handle.net/11351/8102
dc.description.abstract
Next-generation sequencing; Rare anemia
dc.description.abstract
Secuenciación de nueva generación; Anemia rara
dc.description.abstract
Seqüenciació de nova generació; Anèmia rara
dc.format
application/pdf
dc.relation
British Journal of Haematology;198(3)
dc.relation
https://doi.org/10.1111/bjh.18191
dc.rights
Attribution-NonCommercial-NoDerivatives 4.0 International
dc.rights
http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Anèmia - Diagnòstic
dc.subject
Malalties rares - Diagnòstic
dc.subject
Seqüència de nucleòtids
dc.subject
DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Anemia
dc.subject
Other subheadings::Other subheadings::/diagnosis
dc.subject
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Genetic Techniques::Sequence Analysis::High-Throughput Nucleotide Sequencing
dc.subject
DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases
dc.subject
ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::anemia
dc.subject
Otros calificadores::Otros calificadores::/diagnóstico
dc.subject
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::técnicas genéticas::análisis de secuencias::secuenciación de nucleótidos de alto rendimiento
dc.subject
ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras
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.type
info:eu-repo/semantics/publishedVersion
