Influence of technology in genetic epidemiology

by Marcos Morey, Ana Fernández-Marmiesse, Jose Angel Cocho, María L. Couce
Published 2015-09-01

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

Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes

by Francisco Sousa-Santos, Helder Simões, Lidia Castro-Feijóo, Paloma Cabanas Rodríguez, Ana Fernández-Marmiesse, Rebeca Saborido Fiaño, Teresa Rego, Ángel Carracedo, Jesús Barreiro Conde

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

Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

by Sonia Emperador, Sonia Emperador, Sonia Emperador, Nuria Garrido-Pérez, Nuria Garrido-Pérez, Nuria Garrido-Pérez, Javier Amezcua-Gil, Paula Gaudó, Julio Alberto Andrés-Sanz, Delia Yubero, Delia Yubero, Ana Fernández-Marmiesse, Maria M. O’Callaghan, Maria M. O’Callaghan, Juan D. Ortigoza-Escobar, Juan D. Ortigoza-Escobar, Marti Iriondo, Marti Iriondo, Eduardo Ruiz-Pesini, Eduardo Ruiz-Pesini, Eduardo Ruiz-Pesini, Eduardo Ruiz-Pesini, Angels García-Cazorla, Angels García-Cazorla, Mercedes Gil-Campos, Mercedes Gil-Campos, Rafael Artuch, Rafael Artuch, Julio Montoya, Julio Montoya, Julio Montoya, María Pilar Bayona-Bafaluy, María Pilar Bayona-Bafaluy, María Pilar Bayona-Bafaluy
Published 2020-01-01