Search
Research
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Overview of all published mutations for the two Kabuki syndrome genes and point out possible mutation hot spots and strategies for molecular genetic testing
Research
The effect of siblings and family dog ownership on children's independent mobility to neighbourhood destinationsEffects of siblings and dog ownership on children's independent mobility
Research
Mannitol challenge testing for asthma in a community cohort of young adultsWe aimed to quantify the diagnostic utility of mannitol challenge testing for asthma in a community cohort and a symptomatic wheezing subset of this cohort.
Research
Quality of Life and Psychosocial Well-Being in Youth With Neuromuscular Disorders Who Are Wheelchair Users: A Systematic ReviewTo investigate quality of life (QOL) and psychosocial well-being in youth with neuromuscular disorders (NMDs) who are wheelchair users.
Research
Potential impact of a maternal vaccine for RSV: A mathematical modelling studyRespiratory syncytial virus is a major cause of respiratory morbidity and one of the main causes of hospitalisation in young children.
Research
Brief Report: An Exploratory Study of the Diagnostic Reliability for Autism Spectrum DisorderWe conducted a study that examined the concordance of diagnoses between a multidisciplinary assessment team and a range of clinicians in Australia.
Research
A Relationship Between Early Language Skills and Adult Autistic-Like Traits: Evidence from a Longitudinal Population-Based StudyThis is the first study to show an association between early language ability and autistic-like traits in adulthood
Research
Randomized controlled trial of early regular egg intake to prevent egg allergydetermining if regular consumption of egg protein from age 4 to 6 months reduces the risk of IgE mediated allergy in infants with genetic risk, without eczema.
Research
Planning ahead: the mental health value of natural environmentsOver the past decade, a growing number of studies have linked urban green space and aspects of biodiversity with emotional wellbeing.
Research
Comparable glycemic outcomes for pediatric type 1 diabetes patients in metropolitan and non-metropolitan regions of Western AustraliaThis study reports similar glycemic outcomes for patients attending diabetes clinics in metropolitan and non-metropolitan areas of WA, suggesting that a model of care provided as outreach from a specialized diabetes service is effective in achieving equitable glycemic outcomes.