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Research

The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk

Research

Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based Study

The present estimates of relative recurrence risks for autism spectrum disorder and childhood autism will assist clinicians and families in understanding autism risk

Research

Public health and economic perspectives on acute rheumatic fever and rheumatic heart disease

Efforts to eliminate ARF and RHD in Australia over the past decade have so far been unsuccessful, but this can change

Research

Identification of novel cerebellar developmental transcriptional regulators with motif activity analysis

The FANTOM5 cerebellum time series is a high-quality transcriptome database for functional investigation of gene regulatory networks in cerebellar development

Research

Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010

We report on the prevalence and trends of hypospadias which indicate that the prevalence of hypospadias continues to increase internationally

Research

Older age is associated with a reduced likelihood of ambulance transport to a trauma centre after major trauma in Perth

Older adults who were not transported to the trauma centre had an increased odds of in-hospital mortality

Research

Parental occupational exposure to low-frequency magnetic fields and risk of leukaemia in the offspring: Findings from the Childhood Leukaemia International Consortium

We did not find any associations between parental occupational extremely low-frequency magnetic fields exposure and childhood leukaemia

Research

Feasibility of conducting an early pregnancy diet and lifestyle e-health intervention: The Pregnancy Lifestyle Activity Nutrition (PLAN) project

A lifestyle intervention starting in the first-trimester pregnancy utilising e-health mode of delivery is feasible

Research

Burden of skin disease in two remote primary healthcare centres in northern and central Australia

Skin infections are an under-appreciated and dominant reason for presentation to primary healthcare centres in these indigenous communities