Repositorio Dspace

Listar por autor "O'Callaghan, Mar"

Listar por autor "O'Callaghan, Mar"

Ordenar por:Orden:Resultados:

  • Ribeiro-Constante, Juliána; Tristan-Noguero, Alba; Martínez-Calvo, Fernando-Francisco; Ibanez-Mico, Salvador; Pena-Segura, José-Luis; Ramos-Fernández, José-Miguel; Moyano-Chicano, María-del-Carmen; Camino-Leon, Rafael; Soto-Insuga, Victor; González-Alguacil, Elena; Valera-Davila, Carlos; Fernández-Jaen, Alberto; Plans, Laura; Camacho, Ana; Visa-Rene, Nuria; Martín-Tamayo-Blazquez, María-del-Pilar; Paredes-Carmona, Fernando; Marti-Carrera, Itxaso; Hernández-Fabian, Aranzazu; Tomás-Davi, Meritxell; Sánchez, Merce-Casadesus; Herraiz, Laura-Cuesta; Pita, Patricia-Fuentes; González, Teresa-Bermejo; O'Callaghan, Mar; Iglesias-Santa-Polonia, Federico-Felipe; Cazorla, María-Rosario; Ferrando-Lucas, María-Teresa; González-Meneses, Antonio; Sala-Coromina, Julia; Macaya, Alfons; Lasa-Aranzasti, Amaia; Cueto-González, Anna-Ma; Valera-Parraga, Francisca; Campistol-Plana, Jaume; Serrano, Mercedes; Alonso, Xenia; Del-Castillo-Berges, Diego; Schwartz-Palleja, Marc; Illescas, Sofia; Ramirez-Camacho, Alia; Sans-Capdevila, Oscar; García-Cazorla, Angeles; Bayes, Alex; Alonso-Colmenero, Itziar (FRONTIERS MEDIA SA, 2024-03)
    SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges ...
  • Pintos-Morell, Guillem; Blasco-Alonso, Javier; Couce, María-L; Gutiérrez-Solana, Luis-G; Guillén-Navarro, Encarna; O'Callaghan, Mar; del-Toro, Mireia (ELSEVIER SCIENCE BV, 2018-06)
    There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. We present the ...