Works by Sequeira, Silvia


Results: 18
    1

    Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.

    Published in:
    2020
    By:
    • Pavlu-Pereira, Hana;
    • Silva, Maria João;
    • Florindo, Cristina;
    • Sequeira, Sílvia;
    • Ferreira, Ana Cristina;
    • Duarte, Sofia;
    • Rodrigues, Ana Luísa;
    • Janeiro, Patrícia;
    • Oliveira, Anabela;
    • Gomes, Daniel;
    • Bandeira, Anabela;
    • Martins, Esmeralda;
    • Gomes, Roseli;
    • Soares, Sérgia;
    • Tavares de Almeida, Isabel;
    • Vicente, João B.;
    • Rivera, Isabel
    Publication type:
    journal article
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    5

    A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

    Published in:
    Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 43, doi. 10.1007/s10545-013-9623-1
    By:
    • Coelho, Ana;
    • Ramos, Ruben;
    • Gaspar, Ana;
    • Costa, Cláudia;
    • Oliveira, Anabela;
    • Diogo, Luísa;
    • Garcia, Paula;
    • Paiva, Sandra;
    • Martins, Esmeralda;
    • Teles, Elisa;
    • Rodrigues, Esmeralda;
    • Cardoso, M.;
    • Ferreira, Elena;
    • Sequeira, Sílvia;
    • Leite, Margarida;
    • Silva, Maria;
    • Almeida, Isabel;
    • Vicente, João;
    • Rivera, Isabel
    Publication type:
    Article
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    7
    8
    9

    A Conservar Património em 2022.

    Published in:
    Conservar Património, 2022, v. 40, p. 8
    By:
    • SEQUEIRA, SÍLVIA O.;
    • CLARO, ANA;
    • MIGUEL FERREIRA, TIAGO;
    • FIGUEIREDO, ELIN
    Publication type:
    Article
    10
    11

    2020: o património, a pandemia e a revista.

    Published in:
    Conservar Património, 2021, v. 36, p. 8, doi. 10.14568/cp36fm2
    By:
    • MIGUEL FERREIRA, TIAGO;
    • SEQUEIRA, SÍLVIA O.;
    • CLARO, ANA;
    • ZÉLIA MILLER, ANA;
    • FIGUEIREDO, ELIN
    Publication type:
    Article
    12

    Transformações recentes com vista ao futuro.

    Published in:
    Conservar Património, 2020, n. 35, p. 8, doi. 10.14568/cp35fm2
    By:
    • FIGUEIREDO, ELIN;
    • FERREIRA, TIAGO MIGUEL;
    • CLARO, ANA;
    • MILLER, ANA ZÉLIA;
    • SEQUEIRA, SÍLVIA O.
    Publication type:
    Article
    13

    Fungal stains on paper: is what you see what you get?

    Published in:
    Conservar Património, 2019, v. 32, p. 18, doi. 10.14568/cp2018007
    By:
    • SEQUEIRA, SÍLVIA OLIVEIRA;
    • de Carvalho, HUGO Paiva;
    • Mesquita, NUNO;
    • Portugal, ANTÓNIO;
    • MACEDO, MARIA FILOMENA
    Publication type:
    Article
    14

    Novos desafios para a Conservar Património.

    Published in:
    Conservar Património, 2019, v. 32, p. 6, doi. 10.14568/cp32fm2·ISSN2182-9942
    By:
    • FIGUEIREDO, ELIN;
    • CLARO, ANA;
    • MILLER, ANA ZÉLIA;
    • SEQUEIRA, SÍLVIA O.;
    • FERREIRA, TIAGO MIGUEL
    Publication type:
    Article
    15
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    18

    Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1559
    By:
    • Ferreira, Filipa;
    • Azevedo, Luísa;
    • Neiva, Raquel;
    • Sousa, Carmen;
    • Fonseca, Helena;
    • Marcão, Ana;
    • Rocha, Hugo;
    • Carmona, Célia;
    • Ramos, Sónia;
    • Bandeira, Anabela;
    • Martins, Esmeralda;
    • Campos, Teresa;
    • Rodrigues, Esmeralda;
    • Garcia, Paula;
    • Diogo, Luísa;
    • Ferreira, Ana Cristina;
    • Sequeira, Silvia;
    • Silva, Francisco;
    • Rodrigues, Luísa;
    • Gaspar, Ana
    Publication type:
    Article