Cerebral cavernous malformations: The importance of cutaneous manifestations

by Igor Vazquez-Osorio, Noelia García-González, Mónica Viejo-Díaz, Pablo Gonzalvo-Rodríguez, Eloy Rodríguez-Díaz
Published 2021-01-01

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect

by Uxia Esperón-Moldes, Manuel Ginarte Val, Laura Rodríguez-Pazos, Laura Fachal, José Manuel Azaña, María Barberá Fons, Mónica Viejo Diaz, Ana Vega
Published 2019-06-01

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

by Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell, Nancy Govea, Justo Ramón Gómez-Martínez, Faustino Núñez-Batalla, José A. Garrote, Ángel Mazón-Gutiérrez, María Costales, María Isidoro-García, Belén García-Berrocal, Gonzalo R. Ordóñez, Juan Cadiñanos
Published 2018-07-01