Data | Título | Autor(es) | Tipo | Acesso |
5-Jan-2023 | A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases | Falcão, Marta; Allocca, Mariateresa; Rodrigues, Ana Sofia; Granjo, Pedro; Francisco, Rita; Pascoal, Carlota; Rossi, Maria Grazia; Marques-da-Silva, Dorinda; Magrinho, Salvador C. M.; Jaeken, Jaak; Castro, Larisa Aragon; de Freitas, Cláudia; Videira, Paula A.; de Andrés-Aguayo, Luísa; dos Reis Ferreira, Vanessa | article |  |
Dez-2024 | A community-centric model for conference co-creation | Francisco, Rita; Pascoal, Carlota; Granjo, Pedro; de Freitas, Claudia; Videira, Paula A.; dos Reis Ferreira, Vanessa | article |  |
19-Out-2022 | A Participatory Framework for Plain Language Clinical Management Guideline Development | Francisco, Rita; Alves, Susana; Gomes, Catarina; Granjo, Pedro; Pascoal, Carlota; Brasil, Sandra; Neves, Alice; Santos, Inês; Miller, Andrea; Krasnewich, Donna; Morava, Eva; Lam, Christina; Jaeken, Jaak; Videira, Paula A.; dos Reis Ferreira, Vanessa | article |  |
2019 | An electronic questionnaire for liver assessment in congenital disorders of glycosylation (LeQCDG): A patient-centered study | Marques-da-Silva, Dorinda; Francisco, Rita; dos Reis Ferreira, Vanessa; Forbat, Liz; Lagoa, Ricardo; Videira, Paula A.; Witters, Peter; Jaeken, Jaak; Cassiman, David | bookPart |  |
5-Mai-2021 | Artificial Intelligence in Epigenetic Studies | Brasil, Sandra; Neves, Cátia José; Rijoff, Tatiana; Falcão, Marta; Valadão, Gonçalo; Videira, Paula A.; dos Reis Ferreira, Vanessa | review |  |
Dez-2023 | Congenital disorders of glycosylation (CDG) | Francisco, Rita; Brasil, Sandra; Poejo, Joana; Jaeken, Jaak; Pascoal, Carlota; Videira, Paula A.; dos Reis Ferreira, Vanessa | review |  |
Dez-2024 | Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG) | Granjo, Pedro; Pascoal, Carlota; Gallego, Diana; Francisco, Rita; Jaeken, Jaak; Moors, Tristen; Edmondson, Andrew C.; Kantautas, Kristin A.; Serrano, Mercedes; Videira, Paula A.; dos Reis Ferreira, Vanessa | article |  |
Dez-2024 | Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG) | Poejo, Joana; Gomes, Ana Isabel; Granjo, Pedro; dos Reis Ferreira, Vanessa | article |  |
2024 | Revisiting the immunopathology of congenital disorders of glycosylation | Pascoal, Carlota; Francisco, Rita; Mexia, Patrícia; Pereira, Beatriz Luís; Granjo, Pedro; Coelho, Helena; Barbosa, Mariana; dos Reis Ferreira, Vanessa; Videira, Paula Alexandra | review |  |