Hasil Pencarian - Patrícia Janeiro

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  1. 1
    NGLY1 deficiency—A rare congenital disorder of deglycosylation

    NGLY1 deficiency—A rare congenital disorder of deglycosylation oleh Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar

    Diterbitkan 2020-05-01
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  2. 2
    Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

    Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort oleh Antonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, Patrícia Janeiro, María Ángeles Ruiz, Luisa Diogo, Ramón Cancho-Candela

    Diterbitkan 2021-10-01
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  3. 3
    Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection

    Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection oleh Patrícia Lipari Pinto, Cristina Florindo, Patrícia Janeiro, Rita Loureiro Santos, Sandra Mexia, Hugo Rocha, Isabel Tavares de Almeida, Laura Vilarinho, Ana Gaspar

    Diterbitkan 2022-10-01
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  4. 4
    Role of RNA in Molecular Diagnosis of MADD Patients

    Role of RNA in Molecular Diagnosis of MADD Patients oleh Célia Nogueira, Lisbeth Silva, Ana Marcão, Carmen Sousa, Helena Fonseca, Hugo Rocha, Teresa Campos, Elisa Leão Teles, Esmeralda Rodrigues, Patrícia Janeiro, Ana Gaspar, Laura Vilarinho

    Diterbitkan 2021-05-01
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  5. 5
    New variant in the FBXL4 gene – leading to mitochondrial DNA depletion syndrome

    New variant in the FBXL4 gene – leading to mitochondrial DNA depletion syndrome oleh Carolina Ferreira Gonçalves, Patrícia Lipari Pinto, Ana Raquel Claro, Joana Coelho, Sofia Quintas, Márcia Rodrigues, Paula Costa, Ana Margalha Miranda, Mónica Rebelo, Célia Nogueira, Patrícia Janeiro, Ana Gaspar

    Diterbitkan 2024-04-01
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  6. 6
    Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients

    Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients oleh Hana Pavlu-Pereira, Maria João Silva, Cristina Florindo, Sílvia Sequeira, Ana Cristina Ferreira, Sofia Duarte, Ana Luísa Rodrigues, Patrícia Janeiro, Anabela Oliveira, Daniel Gomes, Anabela Bandeira, Esmeralda Martins, Roseli Gomes, Sérgia Soares, Isabel Tavares de Almeida, João B. Vicente, Isabel Rivera

    Diterbitkan 2020-10-01
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  7. 7
    Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses

    Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses oleh Filipa Ferreira, Luísa Azevedo, Raquel Neiva, Carmen Sousa, Helena Fonseca, Ana Marcão, Hugo Rocha, Célia Carmona, Sónia Ramos, Anabela Bandeira, Esmeralda Martins, Teresa Campos, Esmeralda Rodrigues, Paula Garcia, Luísa Diogo, Ana Cristina Ferreira, Silvia Sequeira, Francisco Silva, Luísa Rodrigues, Ana Gaspar, Patrícia Janeiro, António Amorim, Laura Vilarinho

    Diterbitkan 2021-03-01
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  8. 8
    Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

    Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias oleh Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz, Cristina Tello, Clara Marco-Marín, Itxaso Martí-Carrera, María Jesús Martínez-González, Ainhoa García-Ribes, Raquel Baviera-Muñoz, Isabel Sastre-Bataller, Irene Martínez-Torres, Anna Duat-Rodríguez, Patrícia Janeiro, Esther Moreno, Leticia Pías-Peleteiro, Mar O’Callaghan Gordo, Ángeles Ruiz-Gómez, Esteban Muñoz, Maria Josep Martí, Ana Sánchez-Monteagudo, Candela Fuster, Amparo Andrés-Bordería, Roser Maria Pons, Silvia Jesús-Maestre, Pablo Mir, Vincenzo Lupo, Belén Pérez-Dueñas, Alejandra Darling, Sergio Aguilera-Albesa, Carmen Espinós

    Diterbitkan 2022-10-01
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