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Adapting the ACMG/AMP variant classification framework: a perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Kountouris P, Stephanou C, Lederer CW, Synodinos JT, Bento C, Harteveld CL, Fylaktou E, Koopmann TT, Fikri HH, Michailidou K, Nfonsam LE, Waye JS, Zilfalil BA, Kleanthous M; ClinGen Hemoglobinopathy V
Hum Mutat. 2021 Sep 12. doi: 10.1002/humu.24280. Online ahead of print.
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Identification of a new 2-amino acid insertion in the integrase coding region of HIV-1 subtype G isolates.
Pereira-Vaz J, Crespo P, Mocho L, Martinho P, Fidalgo T, Correia L, Rodrigues F, Duque V.
J Med Virol. 2021 Jul 14. doi: 10.1002/jmv.27205.
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Recommendations for the diagnosis and treatment of patients with thrombotic thrombocytopenic purpura
María Eva Mingot Castellano, Cristina Pascual Izquierdo, Ataulfo González, Aurora Viejo Llorente, David Valcarcel Ferreira, Elena Sebastián, T Fidalgo et al
Med Clin (Barc) . 2021 Jul 12;S0025-7753(21)00332-8.
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Multicentric evaluation of the new HemosIL Acustar ® chemiluminescence ADAMTS13 activity assay
Cristina Pascual, Jorge M Nieto, Teresa Fidalgo, Inés Gómez Seguí, Maribel Díaz-Ricart, Marta Fernández Docampo, Julio Del Rio, Ramon Salinas
Int J Lab Hematol . 2021 Jun;43(3):485-493. doi: 10.1111/ijlh.13414.
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Alterations in peripheral blood monocyte and dendritic cell subset homeostasis in relapsing-remitting multiple sclerosis patients
Andreia Monteiro, Pedro Rosado, Luiza Rosado, Ana Mafalda Fonseca, Margarida Coucelo, Artur Paiva
J Neuroimmunol . 2020 Nov 5;350:577433. doi: 10.1016/j.jneuroim.2020.577433. Online ahead of print.
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Reviewing thrombotic thrombocytopenic purpura diagnosis and treatment in a Portuguese hospital
Miguel Relvas, Isabel Tavares, Teresa Fidalgo, Luís Mendonça, Luís Coentrão
Eur J Intern Med . 2020 Jan;71:95-97. doi: 10.1016/j.ejim.2019.11.004. Epub 2019 Nov 14.
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Clearance and persistence of SARS-CoV-2 RNA in patients with COVID-19.
Carmo A, Pereira-Vaz J, Mota V, Mendes A, Morais C, da Silva AC, Camilo E, Pinto CS, Cunha E, Pereira J, Coucelo M, Martinho P, Correia L, Marques G, Araújo L, Rodrigues F.
J Med Virol. 2020 Oct;92(10):2227-2231.
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An Updated Approach to Myelodysplastic Syndromes (MDS)
Ana Bela Sarmento Ribeiro, Bárbara Marques, Carolina Afonso, Ana Cristina Gonçalves, Nuno Silva, Ana Teresa Simões, Margarida Coucelo, Paula Laranjeira, Artur Paiva and Emília Cortesão
In Myelodysplastic Syndrome: From Diagnosis to Treatment (Emma Steffensen), ISBN: 978-1-53617-997-2
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DNA methylation age estimation in blood samples of living and deceased individuals using a multiplex SNaPshot assay
Helena Correia Dias, Cristina Cordeiro, Janet Pereira, Catarina Pinto, Francisco Corte Real, Eugénia Cunha, Licínio Manco
Forensic Science International, Volume 311, June 2020, 110267.
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Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers
Manco L, Bento C, Relvas L, Cunha E, Pereira J, Moreira V, Alvarez M, Maia T, Ribeiro ML
Hemoglobin. 2020 Mar;44(2):113-117.
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