Search: CIAS - Centro de Investigação em Antropologia e Saúde
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Issue Date | Title | Author(s) | Type | Access | |
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1 | 2015 | Polymorphic variations influencing fetal hemoglobin levels: Association study in beta-thalassemia carriers and in normal individuals of Portuguese origin | Pereira, Clara ; Relvas, Luís ; Bento, Celeste ; Abade, Augusto ; Ribeiro, M. Letícia ; Manco, Licínio | article | openAccess |
2 | 2016 | Severe neonatal jaundice due to ade novoglucose-6-phosphate dehydrogenase deficient mutation | Del 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. | article | openAccess |
3 | 2016 | Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing | Del 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. | article | openAccess |
4 | 2016 | Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency | Pereira, Janet ; Bento, Celeste ; Manco, Licinio ; Gonzalez, Ataulfo ; Vagace, Jose ; Ribeiro, Maria Letícia | article | openAccess |
5 | 2016 | Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study | Manco, Licínio ; Bento, Celeste ; Victor, Bruno L. ; Pereira, Janet ; Relvas, Luís ; Brito, Rui M. ; Seabra, Carlos ; Maia, Tabita M. ; Ribeiro, M. Letícia | article | openAccess |
6 | Jun-2015 | Intragenic haplotype analysis of common HFE mutations in the Portuguese population | Toste, Sandra ; Relvas, Luís ; Pinto, Catarina ; Bento, Celeste ; Abade, Augusto ; Ribeiro, M. Letícia ; Manco, Licínio | article | embargoedAccess |