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Final Draft Veronica Poster Jul20_18.pdf
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

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…
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