Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes

by Iria Roca, Ana Fernández-Marmiesse, Sofía Gouveia, Marta Segovia, María L. Couce
Published 2018-05-01

Micronutrient in hyperphenylalaninemia

by Vanesa Crujeiras, Luís Aldámiz-Echevarría, Jaume Dalmau, Isidro Vitoria, Fernando Andrade, Iria Roca, Rosaura Leis, Ana Fermandez-Marmiesse, María L. Couce
Published 2015-09-01

Carbohydrate status in patients with phenylketonuria

by María L. Couce, Paula Sánchez-Pintos, Isidro Vitoria, María-José De Castro, Luís Aldámiz-Echevarría, Patricia Correcher, Ana Fernández-Marmiesse, Iria Roca, Alvaro Hermida, Miguel Martínez-Olmos, Rosaura Leis
Published 2018-06-01

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

by Ana Fernández-Marmiesse, Ana Fernández-Marmiesse, Iria Roca, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso, Montserrat Rodríguez-Pedreira, Rogelio Simón, Ana Camacho, Ana Camacho, Pilar Quijada, Salvador Ibanez-Mico, Mª Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Mª Llanos Carrasco, Feliciano Ramos, Mª Luz Couce, Mª Luz Ruiz-Falcó, Luis Gutierrez-Solana, Margarita Martínez-Atienza, Margarita Martínez-Atienza, Margarita Martínez-Atienza
Published 2019-11-01