Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies

Por Riera, Marina, Navarro, Rafael, Ruiz-Nogales, Sheila, Méndez, Pilar, Burés-Jelstrup, Anniken, Corcóstegui, Borja, Pomares, Esther
Publicado no Sci Rep (2017)

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

Por Pomares, Esther, Riera, Marina, Permanyer, Jon, Méndez, Pilar, Castro-Navarro, Joaquín, Andrés-Gutiérrez, Ángeles, Marfany, Gemma, Gonzàlez-Duarte, Roser
Publicado em 2010