Export 3 results:
Author Title Type [ Year
] Filters: Author is González-del Pozo, María and Keyword is Female [Clear All Filters]
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice. J Transl Med. 2025;23(1):86. doi:10.1186/s12967-025-06069-2.
Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. PLoS One. 2014;9(12):e116176. doi:10.1371/journal.pone.0116176.
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat. 2010;31(11):E1772-800. doi:10.1002/humu.21334.