Browsing by Author Prat-Planas, Aina
Showing results 1 to 4 of 4
| Issue Date | Title | Author(s) |
|---|---|---|
| 7-Sep-2022 | Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2 | Castilla-Vallmanya, Laura; Centeno-Pla, Mónica; Serrano, Mercedes; Franco-Valls, Héctor; Martínez-Cabrera, Raúl; Prat-Planas, Aina; Rojano, Elena; Ranea, Juan A G; Seoane, Pedro; Oliva, Clara; Paredes Fuentes, Abraham José; Marfany i Nadal, Gemma; Artuch, Rafael; Grinberg Vaisman, Daniel Raúl; Rabionet Janssen, Raquel; Balcells Comas, Susana; Urreizti, Roser |
| 4-Feb-2021 | De Novo PORCN and ZIC2 mutations in a highly consanguineous family | Castilla Vallmanya, Laura; Gürsoy, Semra; Giray Bozkaya, Özlem; Prat-Planas, Aina; Bullich, Gemma; Matalonga Borrel, Lesley; Centeno-Pla, Mónica; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Urreizti, Roser |
| 13-Mar-2024 | Expanding the phenotypic spectrum of <em>TRAF7</em>-related CAFDADD: report of eleven new cases and literature review. | Palma-Milla, Carmen; Prat-Planas, Aina; Soengas-Gonda, Emma; Centeno-Pla, Mónica; Sánchez-Pozo, Jaime; Lazaro-Rodriguez, Irene; Quesada-Espinosa, Juan F.; Arteche-Lopez, Ana; Olival, Jonathan; Pacio-Miguez, Marta; Palomares-Bralo, María; Santos-Simarro, Fernando; Cancho-Candela, Ramón; Vázquez-López, María; Seidel, Veronica; Martinez-Monseny, Antonio F.; Casas-Alba, Didac; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Serrano, Mercedes; Rabionet Janssen, Raquel; Martin, Miguel A.; Urreizti, Roser |
| 1-Aug-2024 | Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome | Centeno-Pla, Mónica; Alcaide-Consuegra, Estefanía; Gibson, Sophie; Prat-Planas, Aina; Gutiérrez-Ávila, Juan Diego; Grinberg Vaisman, Daniel Raúl; Urreizti, Roser; Rabionet Janssen, Raquel; Balcells Comas, Susana |