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Research
Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart diseaseGenomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.
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Factors influencing public perceptions of child neglect: A mixed methods studyMore than 1 in 5 children experience neglect, exposing them to several adverse consequences. Children with intellectual disability experience additional neglect related challenges. Public perceptions significantly influence the identification, intervention, and prevention of child neglect.
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The diagnosis of attention-deficit/hyperactivity disorder in Australian children: Current paediatric practice and parent perspectiveAustralian paediatric practice in relation to ADHD assessment is generally consistent with best practice guidelines
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Influenza vaccine effectiveness and uptake in children at risk of severe diseaseParticipation in the preschool influenza vaccination program remains low with parents unconvinced of the benefits and safety of influenza vaccine
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A Prospective Ultrasound Study of Prenatal Growth in Infant Siblings of Children With AutismIdentified no significant differences between the high- and low-risk fetuses in the rate of prenatal head and body growth throughout the 2nd and 3rd-trimester
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An Official ATS/ERS Workshop Report: Evaluation of Respiratory Mechanics and Function in the Pediatric and Neonatal Intensive Care UnitsThis report summarizes techniques available for ventilated and spontaneously breathing infants and children in the ICU
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The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceThe Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
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Neonatal drug withdrawal syndrome: Cross-country comparison using hospital administrative data in England, the USA, Western Australia and Ontario, Canada.We determined trends over time in the prevalence of neonatal drug withdrawal syndrome (NWS) in England compared with that reported in the USA, Western (W)...
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Interobserver reliability of the Australian Spasticity Assessment Scale (ASAS)The Australian Spasticity Assessment Scale complies with the definition of spasticity and is clinically feasible in paediatric settings
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Tightrope walking: Using predictors of 25 (OH)D concentration based on multivariable linear regression to infer associations with health risksThe approach of predicted 25 (OH)D concentration derived from multivariable linear regression may be valid..