Examinant per Autoria "Castilla-Vallmanya, Laura"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A de novo FOXP1 truncating mutation in a patient originally diagnosed as C syndrome(Nature Research, 2018) Urreizti, Roser; Damanti, Sarah; Esteve, Carla; Franco Valls, Héctor; Castilla-Vallmanya, Laura; Tonda, Raúl; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert De novo PORCN and ZIC2 mutations in a highly consanguineous family(MDPI, 2021) Castilla-Vallmanya, Laura; Gürsoy, Semra; Bozkaya, Özlem Giray; Prats-Planas, Aina; Bullich, Gemma; Matalonga, Leslie; Centeno-Pla, Mónica; Rabionet Janssen, Raquel; Grinberg, Daniel; Balcells, Susana; Urreizti, Roser
Ítem Accés Obert Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum(BioMed Central, 2020) Urreizti, Roser; López Martín, Estrella; Martínez Monseny, Antonio Federico; Pujadas, Montserrat ; Castilla-Vallmanya, Laura; Pérez Jurado, Luis Alberto; Serrano, Mercedes L.; Natera de Benito, Daniel; Martínez Delgado, Beatriz; Posada de la Paz, Manuel; Alonso, Javier; Marín Reina, Purificación; O'Callaghan, Mar; Grinberg, Daniel; Bermejo Sánchez, Eva; Balcells, Susana