Quality of life in patients with hereditary haemorrhagic telangiectasia (HHT)

por Zarrabeitia, Roberto, Fariñas-Álvarez, Concepción, Santibáñez, Miguel, Señaris, Blanca, Fontalba, Ana, Botella, Luisa María, Parra, José Antonio
Publicado 2017

Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1

por Fontalba, Ana, Fernández-Luna, Jose L, Zarrabeitia, Roberto, Recio-Poveda, Lucia, Albiñana, Virginia, Ojeda-Fernández, Maria L, Bernabéu, Carmelo, Alcaraz, Luis A, Botella, Luisa M
Publicado 2013

Radixin modulates the function of outer hair cell stereocilia

por Prasad, Sonal, Vona, Barbara, Diñeiro, Marta, Costales, María, González-Aguado, Rocío, Fontalba, Ana, Diego-Pérez, Clara, Subasioglu, Asli, Bademci, Guney, Tekin, Mustafa, Cabanillas, Rubén, Cadiñanos, Juan, Fridberger, Anders
Publicado 2020

Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia

por Fontalba, Ana, Fernandez-L, Africa, García-Alegria, Eva, Albiñana, Virginia, Garrido-Martin, Eva M, Blanco, Francisco J, Zarrabeitia, Roberto, Perez-Molino, Alfonso, Bernabeu-Herrero, Maria E, Ojeda, Maria-Luisa, Fernandez-Luna, Jose L, Bernabeu, Carmelo, Botella, Luisa M
Publicado 2008

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

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

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)(2)D serum levels are associated with PHEX mutation...

por Morey, Marcos, Castro-Feijóo, Lidia, Barreiro, Jesús, Cabanas, Paloma, Pombo, Manuel, Gil, Marta, Bernabeu, Ignacio, Díaz-Grande, José M, Rey-Cordo, Lourdes, Ariceta, Gema, Rica, Itxaso, Nieto, José, Vilalta, Ramón, Martorell, Loreto, Vila-Cots, Jaime, Aleixandre, Fernando, Fontalba, Ana, Soriano-Guillén, Leandro, García-Sagredo, José M, García-Miñaur, Sixto, Rodríguez, Berta, Juaristi, Saioa, García-Pardos, Carmen, Martínez-Peinado, Antonio, Millán, José M, Medeira, Ana, Moldovan, Oana, Fernandez, Angeles, Loidi, Lourdes
Publicado 2011