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TÍTULO: Addressing the need for an external quality assessment for next generation sequencing (NGS) in the diagnosis of rare inherited anaemias.  Full Text
AUTORES: Roy, N; Proven, M; Roberts, I; Tamary, H; Swinkels, D; Patricia, AM; Bianchi, P; Colombatti, R; Russo, R; Clark, B; Del Mar Manu, MD; Sanchez, M; Andres A D Del Orbe Barreto; Fermo, E; Viprakasit, V; Korchuenjit, J; Magalhaes Maia, TM; Smith, F; Da Costa, L; Marzollo, A; De la Hoz, AB; Arrizabalaga, B; Delasalle, B; Iolascon, A; ...Mais
PUBLICAÇÃO: 2019, FONTE: 59th Annual Scientific Meeting of the British-Society-for-Hematology in BRITISH JOURNAL OF HAEMATOLOGY, VOLUME: 185
INDEXADO EM: WOS
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TÍTULO: The Natural History of Ferroportin Disease-First Results of the International, Multicenter EASL non-HFE Registry
AUTORES: Benedikt Schaefer; Andre Viveiros; Elena Corradini; Massimo Fiorini; Stefania Scarlini; Raffaela Rametta; Sara Pelucchi; Fabiana Busti; Hansi Weissensteiner; Sebastian Schoenherr; Lukas Forer; Nathan Subramaniam; Edouard Bardou Jacquet; John Ryan; Olivier Loreal; Dorine Swinkels; Mayka Sanchez; Martina Muckenthaler; Alexander Drakesmith; Herbert Tilg; Gunter Weiss; Igor Theurl; Florian Kronenberg; Domenico Girelli; Alberto Piperno; Antonello Pietrangelo; Luca Valenti; Graca Porto; Heinz Zoller; ...Mais
PUBLICAÇÃO: 2019, FONTE: International Liver Congress / 54th Annual Meeting of the European-Association-for-the-Study-of-the-Liver (EASL) in JOURNAL OF HEPATOLOGY, VOLUME: 70
INDEXADO EM: WOS
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TÍTULO: The importance of the general practitioner as an information source for patients with hereditary haemochromatosis  Full Text
AUTORES: Emerencia Teixeira; Julio Borlido Santos; Pierre Brissot; Barbara Butzeck; Francoise Courtois; Robert W Evans; Janet Fernau; Joao Arriscado Nunes; Margaret Mullett; Milena Paneque ; Brigitte Pineau; Graca Porto; Robert Sorrill; Mayka Sanchez; Dorine W Swinkels; Ketil Toska; Judit Varkonyi;
PUBLICAÇÃO: 2014, FONTE: PATIENT EDUCATION AND COUNSELING, VOLUME: 96, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef: 10
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TÍTULO: Low serum levels of prohepcidin, but not hepcidin-25, are related to anemia in familial amyloidosis TTR V30M  Full Text
AUTORES: Idalina Beirao ; Susana Almeida; Dorine Swinkels; Paulo M P Costa ; Luciana Moreira; Isabel Fonseca ; Cristina Freitas; Antonio Cabrita; Graca Porto ;
PUBLICAÇÃO: 2008, FONTE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 41, NÚMERO: 2
INDEXADO EM: Scopus WOS CrossRef: 4