Efficient processing of complex XSD using Hive and Spark

por Martinez-Mosquera, Diana, Navarrete, Rosa, Luján-Mora, Sergio
Publicado 2021

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

por Soriano-Sexto, Alejandro, Gallego, Diana, Leal, Fátima, Castejón-Fernández, Natalia, Navarrete, Rosa, Alcaide, Patricia, Couce, María L., Martín-Hernández, Elena, Quijada-Fraile, Pilar, Peña-Quintana, Luis, Yahyaoui, Raquel, Correcher, Patricia, Ugarte, Magdalena, Rodríguez-Pombo, Pilar, Pérez, Belén
Publicado 2022

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

por Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María Jesús, Desviat, Lourdes R., Riera, Casandra, Padilla, Natàlia, de la Cruz, Xavier, Couce, Mari Luz, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, de Almeida, Isabel Tavares, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén
Publicado 2018

Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

por Bravo-Alonso, Irene, Navarrete, Rosa, Vega, Ana Isabel, Ruíz-Sala, Pedro, García Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Belanger-Quintana, Amaya, Stanescu, Sinziana, Bueno, María, Vitoria, Isidro, Toledo, Laura, Couce, María Luz, García-Jiménez, Inmaculada, Ramos-Ruiz, Ricardo, Martín, Miguel Ángel, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Merinero, Begoña, Pérez, Belén, Rodríguez-Pombo, Pilar
Publicado 2019

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

por Martín‐Rivada, Álvaro, Palomino Pérez, Laura, Ruiz‐Sala, Pedro, Navarrete, Rosa, Cambra Conejero, Ana, Quijada Fraile, Pilar, Moráis López, Ana, Belanger‐Quintana, Amaya, Martín‐Hernández, Elena, Bellusci, Marcello, Cañedo Villaroya, Elvira, Chumillas Calzada, Silvia, García Silva, María Teresa, Bergua Martínez, Ana, Stanescu, Sinziana, Martínez‐Pardo Casanova, Mercedes, Ruano, Miguel L. F., Ugarte, Magdalena, Pérez, Belén, Pedrón‐Giner, Consuelo
Publicado 2022

Impact of COVID-19 Lockdown in Eating Disorders: A Multicentre Collaborative International Study

por Baenas, Isabel, Etxandi, Mikel, Munguía, Lucero, Granero, Roser, Mestre-Bach, Gemma, Sánchez, Isabel, Ortega, Emilio, Andreu, Alba, Moize, Violeta L., Fernández-Real, Jose-Manuel, Tinahones, Francisco J., Diéguez, Carlos, Frühbeck, Gema, Le Grange, Daniel, Tchanturia, Kate, Karwautz, Andreas, Zeiler, Michael, Imgart, Hartmut, Zanko, Annika, Favaro, Angela, Claes, Laurence, Shekriladze, Ia, Serrano-Troncoso, Eduardo, Cecilia-Costa, Raquel, Rangil, Teresa, Loran-Meler, Maria Eulalia, Soriano-Pacheco, José, Carceller-Sindreu, Mar, Navarrete, Rosa, Lozano, Meritxell, Linares, Raquel, Gudiol, Carlota, Carratala, Jordi, Plana, Maria T., Graell, Montserrat, González-Parra, David, Gómez-del Barrio, José A., Sepúlveda, Ana R., Sánchez-González, Jéssica, Machado, Paulo P. P., Håkansson, Anders, Túry, Ferenc, Pászthy, Bea, Stein, Daniel, Papezová, Hana, Gricova, Jana, Bax, Brigita, Borisenkov, Mikhail F., Popov, Sergey V., Gubin, Denis G., Petrov, Ivan M., Isakova, Dilara, Mustafina, Svetlana V., Kim, Youl-Ri, Nakazato, Michiko, Godart, Nathalie, van Voren, Robert, Ilnytska, Tetiana, Chen, Jue, Rowlands, Katie, Voderholzer, Ulrich, Monteleone, Alessio M., Treasure, Janet, Jiménez-Murcia, Susana, Fernández-Aranda, Fernando
Publicado 2021