Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4

por Abad-Morales, Víctor, Navarro, Rafael, Burés-Jelstrup, Anniken, Pomares, Esther
Publicado 2020

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 2017

Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations

por Riera, Marina, Patel, Achchhe, Burés-Jelstrup, Anniken, Corcostegui, Borja, Chang, Stanley, Pomares, Esther, Corneo, Barbara, Sparrow, Janet R.
Publicado 2019