Found: 4

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  • Apuntaciones sobre dos prefijos tan populares como desconocidos: retey requete.

    Published in:
    Romanistisches Jahrbuch, 2010, v. 60, p. 239, doi. 10.1515/9783110223095.2.239
    By:
    • García Jiménez, Inmaculada
    Publication type:
    Article

  • Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 5, p. 615, doi. 10.1111/cge.13508
    By:
    • Medrano, Celia;
    • Vega, Ana;
    • Navarrete, Rosa;
    • Ecay, M. Jesús;
    • Calvo, Rocío;
    • Pascual, Samuel Ignacio;
    • Ruiz‐Pons, Mónica;
    • Toledo, Laura;
    • García‐Jiménez, Inmaculada;
    • Arroyo, Ignacio;
    • Campo, Andrea;
    • Couce, M. Luz;
    • Domingo‐Jiménez, M. Rosario;
    • García‐Silva, M. Teresa;
    • González‐Gutiérrez‐Solana, Luis;
    • Hierro, Loreto;
    • Martín‐Hernández, Elena;
    • Martínez‐Pardo, Mercedes;
    • Roldán, Susana;
    • Tomás, Miguel
    Publication type:
    Article

  • Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 187, doi. 10.1186/s13023-014-0187-4
    By:
    • Martín-Hernández, Elena;
    • Aldámiz-Echevarría, Luis;
    • Castejón-Ponce, Esperanza;
    • Pedrón-Giner, Consuelo;
    • Couce, María Luz;
    • Serrano-Nieto, Juliana;
    • Pintos-Morell, Guillem;
    • Bélanger-Quintana, Amaya;
    • Martínez-Pardo, Mercedes;
    • García-Silva, María Teresa;
    • Quijada-Fraile, Pilar;
    • Vitoria-Miñana, Isidro;
    • Dalmau, Jaime;
    • Lama-More, Rosa A;
    • Bueno-Delgado, María Amor;
    • Toro-Riera, Mirella del;
    • García-Jiménez, Inmaculada;
    • Sierra-Córcoles, Concepción;
    • Ruiz-Pons, Mónica;
    • Peña-Quintana, Luis J
    Publication type:
    Article

  • Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 1811, doi. 10.3390/jcm8111811
    By:
    • Bravo-Alonso, Irene;
    • Navarrete, Rosa;
    • Vega, Ana Isabel;
    • Ruíz-Sala, Pedro;
    • García Silva, María Teresa;
    • Martín-Hernández, Elena;
    • Quijada-Fraile, Pilar;
    • Belanger-Quintana, Amaya;
    • Stanescu, Sinziana;
    • Bueno, María;
    • Vitoria, Isidro;
    • Toledo, Laura;
    • Couce, María Luz;
    • García-Jiménez, Inmaculada;
    • Ramos-Ruiz, Ricardo;
    • Martín, Miguel Ángel;
    • Desviat, Lourdes R.;
    • Ugarte, Magdalena;
    • Pérez-Cerdá, Celia;
    • Merinero, Begoña
    Publication type:
    Article