Search Results - "Roque, Rafael Fidalgo"

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    Medulloblastoma Development in a Patient with a Constitutional Balanced t(5;22)(q35.1;q11.2) Involving the NF2 Gene by Nunes, Sofia, Faria, Claudia C., Pimentel, José, Roque, Rafael Fidalgo, Alaiz, Helena, Salazar, Isabel, Pereira, Teresa, Ferreira, Filipa, Roque, Lúcia

    Published in Case reports in oncology (01-01-2023)
    “…Abstract Neurofibromatosis type 2 (NF2) is a brain tumor predisposing syndrome caused by inactivating alterations of the NF2 gene mapped at chromosome 22q…”
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    Journal Article
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    Inherited myopathies in patients from Sub-Saharan Africa: Results from a retrospective cohort by Oliveira, Renato, Sotero, Filipa Dourado, Coelho, Joana, Roque, Rafael, Moreno, Teresa, Oliveira Santos, Miguel

    Published in Journal of clinical neuroscience (01-12-2022)
    “…•Clinical epidemiology of inherited myopathies in sub-Saharan Africa (SSA) is unknown.•We report a case series with 9 patients from SSA.•All patients had the…”
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    Journal Article
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    A case of trigeminal malignant melanotic nerve sheath tumor in the wide spectrum of melanotic and nerve sheath tumors by Rachão, Augusto, Ferro, Margarida, Valente Fidalgo Ramos Roque, Rafael, Rainha Campos, Alexandre, Pimentel, José

    Published in Neuropathology (01-08-2023)
    “…© 2023 Japanese Society of Neuropathology. We report the case of a 42-year-old male, without any other personal or familiar relevant background, who was…”
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