Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles

por Monteiro, Catarina, Gonçalves, Ana, Oliveira, Jorge, Salvado, Ramon, Tomaz, Jorge, Morais, Sara, Lima, Margarida, Santos, Rosário
Publicado 2022

Haemophilia A: health and economic burden of a rare disease in Portugal

por Café, Andreia, Carvalho, Manuela, Crato, Miguel, Faria, Miguel, Kjollerstrom, Paula, Oliveira, Cristina, Pinto, Patrícia R., Salvado, Ramón, dos Santos, Alexandra Aires, Silva, Catarina
Publicado 2019

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