Variants in the new E1ʹ cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases

por Rodrigues, Catarina Dantas, Pombal, Rita, Pereira, Janet, Relvas, Luís, Cunha, Elizabete, Almeida, José Carlos, Maia, Tabita, Silva, Helena, Bento, Celeste
Publicado 2022

PB2510: CHARACTERISATION OF SICKLE CELL DISEASE PATIENTS: A PORTUGUESE REAL-WORLD STUDY (ASCEND)

por Deveza, Maria Manuel, Da Fonseca, Inês Nogueira, Monteiro Saunders, Christopher James Ornelas, Major, Marinela, Tome, Ana Luisa, Martins, Joana, Maia, Tabita, Bento, Celeste, Brás, Daniel
Publicado 2023

Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next‐generation sequencing

por Fidalgo, Teresa, Martinho, Patrícia, Pinto, Catarina S., Oliveira, Ana C., Salvado, Ramon, Borràs, Nina, Coucelo, Margarida, Manco, Licínio, Maia, Tabita, Mendes, M. João, Del Orbe Barreto, Rafael, Corrales, Irene, Vidal, Francisco, Ribeiro, M. Letícia
Publicado 2017

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells

por Garate, Zita, Quintana-Bustamante, Oscar, Crane, Ana M., Olivier, Emmanuel, Poirot, Laurent, Galetto, Roman, Kosinski, Penelope, Hill, Collin, Kung, Charles, Agirre, Xabi, Orman, Israel, Cerrato, Laura, Alberquilla, Omaira, Rodriguez-Fornes, Fatima, Fusaki, Noemi, Garcia-Sanchez, Felix, Maia, Tabita M., Ribeiro, Maria L., Sevilla, Julian, Prosper, Felipe, Jin, Shengfang, Mountford, Joanne, Guenechea, Guillermo, Gouble, Agnes, Bueren, Juan A., Davis, Brian R., Segovia, Jose C.
Publicado 2015