Drupal-Biblio17<style face="normal" font="default" size="100%">Afebrile seizures in infants: Never forget magnesium!</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">"Blaschkoid dyspigmentation" in a child: don't forget fibroblast chromosomal analysis.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A brain and heart connection: X-linked periventricular heterotopia.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic analysis of Italian patients with congenital tufting enteropathy.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A girl with photosensitivity and hepatic steatosis.</style>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%">Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Delayed diagnosis of glycogen storage disease type III.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Evidence of inbreeding depression on human height.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A red baby should not be taken too lightly.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.</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>Drupal-Biblio17<style face="normal" font="default" size="100%">Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.</style>