<style face="normal" font="default" size="100%">Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.</style>

Drupal-Biblio

17

<style face="normal" font="default" size="100%">Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.</style>

Drupal-Biblio

17

<style face="normal" font="default" size="100%">Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.</style>

Drupal-Biblio

17

<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-Biblio

17

<style face="normal" font="default" size="100%">Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.</style>

Drupal-Biblio

17

<style face="normal" font="default" size="100%">Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.</style>