Percorrer por autor Rivera, Isabel
Mostrar resultados 1-2 de 2.
| Data | Título | Autor(es) | Tipo | Acesso |
| 22-Jun-2016 | Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells | Pinheiro, Ana; Silva, Maria João; Pavlu-Pereira, Hana; Florindo, Cristina; Barroso, Madalena; Marques, Bárbara; Correia, Hildeberto; Oliveira, Anabela; Gaspar, Ana; Tavares de Almeida, Isabel; Rivera, Isabel | article |  |
| Abr-2016 | Next-generation sequencing of iron-metabolism related genes in Portuguese patients with iron overload: novel pathogenic genetic variants | Faria, Ricardo; Silva, Bruno; Silva, Catarina; Vieira, Luis; Loureiro, Pedro; Gomes, Susana; Gonçalves, João; Rivera, Isabel; Fraga, Sofia; Fleming, Rita; Faustino, Paula | conferenceObject |  |
