Browse Items (4 total)

Background: Children affected by severe, progressive life-limiting diseases experience a variety of symptoms and disease trajectories that are not well understood or described. Many of these children do not have a specific medical diagnosis, but are…

PURPOSE: To investigate the impact of rapid-turnaround exome sequencing in critically ill neonates using phenotype-based subject selection criteria. METHODS: Intensive care unit babies aged

BACKGROUND: Sleep problems are common in individuals with intellectual disability. Little is known about sleep in children and adults with Cri du Chat syndrome (CDC).;METHOD: Sleep was investigated in 30 individuals with CDC using a sleep…

AIM: To investigate paediatricians' expectations and perspectives of genetic testing for children with developmental disorders. METHODS: Paediatricians working in a developmental clinic were surveyed each time they ordered a chromosomal microarray…