Drupal-Biblio17<style face="normal" font="default" size="100%">Characterization of the Common Genetic Variation in the Spanish Population of Navarre.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">CSVS, a crowdsourcing database of the Spanish population genetic variability.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.</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%">ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The role of the interactome in the maintenance of deleterious variability in human populations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.</style>