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Issue DateTitleAuthor(s)TypeAccess
12015Polymorphic variations influencing fetal hemoglobin levels: Association study in beta-thalassemia carriers and in normal individuals of Portuguese originPereira, Clara ; Relvas, Luís ; Bento, Celeste ; Abade, Augusto ; Ribeiro, M. Letícia ; Manco, Licínio articleopenAccess
22016Severe neonatal jaundice due to ade novoglucose-6-phosphate dehydrogenase deficient mutationDel Orbe Barreto, R. ; Arrizabalaga, B. ; de la Hoz, A. B ; Aragües, P. ; Garcia-Ruiz, J. C. ; Arrieta, A. ; Adán, R. ; Manco, L. ; Macedo-Ribeiro, S. ; Bento, C. ; Ribeiro, M. L. articleopenAccess
32016Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencingDel Orbe Barreto, R. ; Arrizabalaga, B. ; De la Hoz, A. B. ; García-Orad, Á. ; Tejada, M. I. ; Garcia-Ruiz, J. C. ; Fidalgo, T. ; Bento, C. ; Manco, L. ; Ribeiro, M. L. articleopenAccess
42016Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiencyPereira, Janet ; Bento, Celeste ; Manco, Licinio ; Gonzalez, Ataulfo ; Vagace, Jose ; Ribeiro, Maria Letícia articleopenAccess
52016Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular studyManco, Licínio ; Bento, Celeste ; Victor, Bruno L. ; Pereira, Janet ; Relvas, Luís ; Brito, Rui M. ; Seabra, Carlos ; Maia, Tabita M. ; Ribeiro, M. Letícia articleopenAccess
6Jun-2015Intragenic haplotype analysis of common HFE mutations in the Portuguese populationToste, Sandra ; Relvas, Luís ; Pinto, Catarina ; Bento, Celeste ; Abade, Augusto ; Ribeiro, M. Letícia ; Manco, Licínio articleembargoedAccess