Drupal-Biblio17<style face="normal" font="default" size="100%">A neonate with a 'milky' blood. What can it be?</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.</style>