Drupal-Biblio17<style face="normal" font="default" size="100%">A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A map of human microRNA variation uncovers unexpectedly high levels of variability.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.</style>