Hakutulokset - Ana Fernández‐Marmiesse

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  1. 1
    NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment

    NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment Tekijä Ana Fernández‐Marmiesse, Sofía Gouveia, María L. Couce

    Julkaistu 2017
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    Revisão
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  2. 2
    Carbohydrate status in patients with phenylketonuria

    Carbohydrate status in patients with phenylketonuria Tekijä María L. Couce, Paula Sánchez‐Pintos, Isidro Vitoria, María-José de Castro, Luis Aldámiz‐Echevarría, Patricia Correcher Medina, Ana Fernández‐Marmiesse, Iria Roca, Á. Hermida Ameijeiras, Miguel Ángel Martínez Olmos, Rosaura Leis

    Julkaistu 2018
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  3. 3
    Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

    Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders Tekijä Ana Fernández‐Marmiesse, Marcos Morey, Mercè Pineda, Jesús Manuel Eirís Puñal, María L. Couce, Manuel Castro‐Gago, José M. Fraga, Lúcia Lacerda, Sofía Gouveia, María Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras, José A. Cocho

    Julkaistu 2014
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    Artigo
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  4. 4
    Molecular epidemiology, genotype–phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria

    Molecular epidemiology, genotype–phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria Tekijä Luis Aldámiz‐Echevarría, Marta Llarena, María A. Bueno, Jaime Dalmau, Isidro Vitoria, Ana Fernández‐Marmiesse, Fernando Andrade, Javier Blasco‐Alonso, Carlos Losilla Alcalde, David Gil, Concepción García, Domingo González‐Lamuño, Mónica Ruiz, María A Ruiz, Luis Peña Quintana, David González, Félix Sánchez‐Valverde, Lourdes R. Desviat, Belén Pérez, María L. Couce

    Julkaistu 2016
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  5. 5
    Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

    Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients Tekijä Ana Fernández‐Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Ma Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso, Montserrat Rodríguez-Pedreira, Rogelio Simón, Ana Camacho, Pilar Quijada, Salvador Ibáñez‐Micó, Ma Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Ma Llanos Carrasco, Feliciano J. Ramos, Ma Luz Couce, Ma Luz Ruiz-Falcó, Luis González Gutiérrez-Solana, Margarita Martínez-Atienza

    Julkaistu 2019
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