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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndromeIn 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.
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An Evaluation of the Overall Utility of Measures of Functioning Suitable for School-Aged Children on the Autism Spectrum: A Scoping ReviewA diagnosis of an autism spectrum condition (autism) provides limited information regarding an individual’s level of functioning, information key in determining support and funding needs.
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Anaesthesia related mortality data at a Tertiary Pediatric Hospital in Western AustraliaAnaesthesia related mortality in paediatrics is rare. There are limited data describing paediatric anaesthesia related mortality. This study determined the anaesthesia related mortality at a Tertiary Paediatric Hospital in Western Australia.
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Factors influencing participation in home, school, and community settings by children and adolescents with neuromuscular disorders: A qualitative descriptive studyThis study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation.
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How does the school built environment impact students’ bullying behaviour? A scoping reviewSchool bullying is a public health concern affecting the physical and mental health of children and young people. While school-based interventions to prevent bullying have been developed internationally, the effectiveness of many interventions has been mixed and modest.
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FastMix: a versatile data integration pipeline for cell type-specific biomarker inferenceFlow cytometry (FCM) and transcription profiling are the two widely used assays in translational immunology research. However, there is no data integration pipeline for analyzing these two types of assays together with experiment variables for biomarker inference.
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Psychological Wellbeing Amongst Parents of Trans Children: An in-Depth Qualitative InvestigationResearch has shown that parents of trans children face numerous challenges as they navigate their parenting role, however, little is known about the impact of these challenges on parents’ psychological wellbeing.
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Neuropsychiatric outcomes in offspring after fetal exposure to maternal influenza infection during pregnancy: A systematic reviewIncreasing evidence suggests that influenza infection in pregnancy may disrupt fetal neurodevelopment. The impact of maternal influenza infection on offspring neuropsychiatric health has not been comprehensively reviewed.
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Quality of life beyond diagnosis in intellectual disability – Latent profilingTo compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.
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Effectiveness of 7-Valent Pneumococcal Conjugate Vaccine Against Invasive Pneumococcal Disease in Medically At-Risk Children in Australia: A Record Linkage StudyChildren with chronic medical conditions are at higher risk of invasive pneumococcal disease (IPD), but little is known about the effectiveness of the primary course of pneumococcal conjugate vaccine (PCV) in these children.