Browsing by Author Serrano, Mercedes
Showing results 2 to 5 of 5
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| Issue Date | Title | Author(s) |
|---|---|---|
| 13-May-2021 | CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings | Martínez Montseny, Antonio Federico; Edo, Albert; Casas Alba, Dídac; Izquierdo Serra, Mercè; Bolasell, Mercè; Conejo, David; Martorell, Loreto; Muchart López, Jordi; Carrera, Laura; Ortez, Carlos Ignacio; Nascimento, Andrés; Oliva Miguel, Baldomero; Fernández Fernández, José M.; Serrano, Mercedes |
| 18-Dec-2013 | Cerebrospinal fluid neopterin analysis in neuropediatric patients: establishment of a new cut off-value for the identification of inflammatory-immune mediated processes | Molero Luis, Marta; Fernández-Ureña, Sergio; Jordán García, Iolanda; Serrano, Mercedes; Ormazabal Herrero, Aida; Garcia-Cazorla, Àngels; Artuch Iriberri, Rafael; Cambra Lasaosa, Francisco José; Neopterin Workin Group |
| 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 |
| 10-Feb-2020 | Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum | Urreizti, Roser; López-Martin, Estrella; Martínez-Monseny, Antonio; Pujadas, Montse; Castilla-Vallmanya, Laura; Pérez-Jurado, Luis Alberto; Serrano, Mercedes; Natera de Benito, Daniel; Martínez-Delgado, Beatriz; Posada-de-la-Paz, Manuel; Alonso, Javier; Marin-Reina, Purificación; O'Callaghan, Mar; Grinberg Vaisman, Daniel Raúl; Bermejo-Sánchez, Eva; Balcells Comas, Susana |