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TITLE: Addressing the need for an external quality assessment for next generation sequencing (NGS) in the diagnosis of rare inherited anaemias.  Full Text
AUTHORS: 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; ...More
PUBLISHED: 2019, SOURCE: 59th Annual Scientific Meeting of the British-Society-for-Hematology in BRITISH JOURNAL OF HAEMATOLOGY, VOLUME: 185
INDEXED IN: WOS
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TITLE: The Natural History of Ferroportin Disease-First Results of the International, Multicenter EASL non-HFE Registry
AUTHORS: 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; ...More
PUBLISHED: 2019, SOURCE: International Liver Congress / 54th Annual Meeting of the European-Association-for-the-Study-of-the-Liver (EASL) in JOURNAL OF HEPATOLOGY, VOLUME: 70
INDEXED IN: WOS
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TITLE: Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype  Full Text
AUTHORS: Paul Adams; Albert Altes; Pierre Brissot; Barbara Butzeck; Ioav Cabantchik; Rodolfo Cancado; Sonia Distante; Patricia Evans; Robert Evans; Tomas Ganz; Domenico Girelli; Rolf Hultcrantz; Gordon McLaren; Ben Marris; Nils Milman; Elizabeta Nemeth; Peter Nielsen; Brigitte Pineau; Alberto Piperno; Graca Porto; Dianne Prince; John Ryan; Mayka Sanchez; Paulo Santos; Dorine Swinkels; Emerencia Teixeira; Ketil Toska; Annick Vanclooster; Desley White; ...More
PUBLISHED: 2018, SOURCE: HEPATOLOGY INTERNATIONAL, VOLUME: 12, ISSUE: 2
INDEXED IN: Scopus WOS
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TITLE: The importance of the general practitioner as an information source for patients with hereditary haemochromatosis  Full Text
AUTHORS: 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;
PUBLISHED: 2014, SOURCE: PATIENT EDUCATION AND COUNSELING, VOLUME: 96, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 8
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TITLE: Hepcidin Serum Levels and Resistance to Recombinant Human Erythropoietin Therapy in Haemodialysis Patients
AUTHORS: Elisio Costa ; Dorine W Swinkels; Coby M Laarakkers; Petronila Rocha Pereira; Susana Rocha ; Flavio Reis ; Frederico Teixeira ; Vasco Miranda; Maria do Sameiro Faria; Alfredo Loureiro; Alexandre Quintanilha ; Luis Belo ; Alice Santos-Silva ;
PUBLISHED: 2009, SOURCE: ACTA HAEMATOLOGICA, VOLUME: 122, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 30