Examinant per Autoria "Urreizti, Roser"
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 A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes(Nature Publishing Group, 2017) Urreizti, Roser; Cueto González, Anna María; Franco Valls, Héctor; Mort Farre, Sílvia; Roca Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort, Magda; Hecht, Jochen; Tizzano, Eduardo F.; 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, Montse; 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
Ítem Accés Obert MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones.(BioMed Central, 2015) Ugarte Corbalán, Laura de, 1988-; Yoskovitz, Guy; Balcells, Susana; Güerri Fernández, Roberto; Martinez-Diaz, Santos; Mellibovsky, Leonardo; Urreizti, Roser; Nogués Solan, Francesc Xavier; Grinberg, Daniel; Garcia Giralt, Natàlia; Díez Pérez, Adolfo