Browsing by Author Quijada Fraile, Pilar
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) |
|---|---|---|
| 1-Oct-2021 | Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations | Hochberg, Irit; Demain, Leigh A. M.; Richer, Julie; Thompson, Kyle; Urquhart, Jill E.; Rea, Alessandro; Pagarkar, Waheeda; Rodríguez Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Pujol, Aurora, 1968-; Quijada Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J.; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A.; Mcmillan, Hugh J.; Barzik, Melanie; Beaman, Glenda M.; Motha, Reeya; Ng, Kah Ying; O’sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Lawrence, Isabella R.; Jenkinson, Emma M.; Zambonin, Jessica L.; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Yue, Wyatt W.; Zschocke, Johannes; Munro, Kevin J.; Battersby, Brendan J.; Friedman, Thomas B.; Taylor, Robert W.; O’keefe, Raymond T.; Newman, William G. |
| 28-Mar-2025 | Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry | Martín Hernández, Elena; Bellusci, Marcello; Pérez Mohand, Patricia; Correcher Medina, Patricia; Blasco Alonso, Javier; Morais López, Ana; Heras Montero, Javier de las; Meavilla Olivas, Silvia Maria; Dougherty de Miguel, Lucy; Couce, Maria Luz; Cañedo Villarroya, Elvira; García Jiménez, María Concepción; Moreno Lozano, Pedro Juan; Vives, Inmaculada; Gil Campos, Mercedes; Stanescu, Sinziana; Ceberio Hualde, Leticia; Camprodón Gómez, Maria; Cortès Saladelafont, Elisenda; López Urdiales, Rafael; Murray Hurtado, Mercedes; Márquez Armenteros, Ana Maria; Sierra Córcoles, Concha; Peña Quintana, Luis; Ruiz Pons, Mónica; Alcalde Martín, Carlos; Castellanos Pinedo, Fernando; Dios, Elena; Barrio Carreras, Delia; Martín Cazaña, María; García Peris, Mónica; Andrade, José David; García Volpe, Camila; Santos Mercedes, Mariela Mercedes de los; García Cazorla, Àngels; Toro, Mireia del; Felipe Rucian, Ana; Comino Monroy, Maria Jose; Sánchez Pintos, Paula; Matas García, Ana; Gil Ortega, David; Martín Rivada, Álvaro; Bergua Martínez, Ana; Belanger Quintana, Amaya; Vitoria Miñana, Isidro; Yahyaoui, Raquel; Pérez Gónzalez, María Belen; Morales Conejo, Montserrat; Quijada Fraile, Pilar |