Bilateral choroidal neovascularization associated with optic nerve head drusen treated by antivascular endothelial growth factor therapy

por Delas, Barbara, Almudí, Lorena, Carreras, Anabel, Asaad, Mouafk
Publicado 2012

New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3′-UTR, deleting exon 5 of RHO, and causing adRP

por de Sousa Dias, Miguel, Hernan, Imma, Delás, Barbara, Pascual, Beatriz, Borràs, Emma, Gamundi, Maria José, Mañé, Begoña, Fernández-San José, Patricia, Ayuso, Carmen, Carballo, Miguel
Publicado 2015

Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells

por Arzalluz-Luque, Ángeles, Cabrera, Jose Luis, Skottman, Heli, Benguria, Alberto, Bolinches-Amorós, Arantxa, Cuenca, Nicolás, Lupo, Vincenzo, Dopazo, Ana, Tarazona, Sonia, Delás, Bárbara, Carballo, Miguel, Pascual, Beatriz, Hernan, Imma, Erceg, Slaven, Lukovic, Dunja
Publicado 2021