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Research

Common variation contributes to the genetic architecture of social communication traits

Social communication difficulties represent an autistic trait that is highly heritable and persistent during the course of development.

Research

A "bottom-up" approach to aetiological research in autism spectrum disorders

Autism spectrum disorders (ASD) are currently diagnosed in the presence of impairments in social interaction and communication, and a restricted range of...

Research

“I have a good life”: the meaning of well-being from the perspective of young adults with Down syndrome

The purposes of this study were to explore what makes for a "good life" from the perspective of young adults with Down syndrome and to identify the barriers...

Research

The Differential Influence of Contextual Risks on Psychosocial Functioning and Participation of Australian Aboriginal Youth

Methodological issues and implications for interventions to support young Aboriginal people's adaptation are discussed.

Research

Novel oncogenic PDGFRA mutations in pediatric high-grade gliomas

The outcome for children with high-grade gliomas (HGG) remains dismal, with a 2-year survival rate of only 10% to 30%.

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Recommendations from a consensus development workshop on the diagnosis of fetal alcohol spectrum disorders in Australia.

Fetal alcohol spectrum disorders (FASD) are underdiagnosed in Australia, and health professionals have endorsed the need for national guidelines for diagnosis.

Research

Chest computed tomography: a validated surrogate endpoint of cystic fibrosis lung disease?

Clinical trials for the treatment of cystic fibrosis (CF) lung disease are important to test and optimise new therapeutic interventions.

Research

Excessive daytime sleepiness increases the risk of motor vehicle crash in obstructive sleep apnea

Our objectives were to describe the incidence rate of motor vehicle crashes (MVCs) in patients with obstructive sleep apnea (OSA) and to investigate MVC risk...

Research

Insights into the possible role of IFNG and IFNGR1 in Kala-azar and Post Kala-azar Dermal Leishmaniasis in Sudanese patients

Uniformly low expression of IFN and IFNGR1 in PKDL skin biopsies could explain parasite persistence

Research

Consensus guidelines for the treatment of invasive mould infections in haematological malignancy and haemopoietic stem cell transplantation

Evidence-based recommendations for the antifungal management of common, rare and emerging mould infections in both adult and paediatric populations