Our greatest untapped resource: our patients

מאת Bolz-Johnson, Matt, Kenny, Tom, Le Cam, Yann, Hernando, Ines
הוצא לאור ב J Community Genet (2021)

Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy

מאת Ribacoba, Renee, Menendez-Gonzalez, Manuel, Hernando, Ines, Salas, Javier, Giros, Maria Luisa
יצא לאור 2008

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options

מאת Diñeiro, Marta, Capín, Raquel, Cifuentes, Guadalupe Á., Fernández‐Vega, Beatriz, Villota, Eva, Otero, Andrea, Santiago, Adrián, Pruneda, Patricia C., Castillo, David, Viejo‐Díaz, Mónica, Hernando, Inés, Durán, Noelia S., Álvarez, Rebeca, Lago, Claudia G., Ordóñez, Gonzalo R., Fernández‐Vega, Álvaro, Cabanillas, Rubén, Cadiñanos, Juan
הוצא לאור ב Acta Ophthalmol (2020)

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

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