Murdoch Childrens Research Institute - Victorian Clinical Genetics Services Ltd
5 papers found
Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement
A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation—A case report and review of the literature
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