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Research

Reframe the Behaviour: Evaluation of a training intervention to increase capacity in managing detained youth with fetal alcohol spectrum disorder and neurodevelopmental impairments

Jonathan Hayley Raewyn Carol Carapetis AM Passmore Mutch Bower AM MBBS FRACP FAFPHM PhD FAHMS BCrim, BAPsych(Hons), PhD MBChB., DipRACOG., Cert.HPRT,

Research

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historically, research about monogenic diseases has focused mainly on people with European ancestry. By comparison, less is known about pathogenic DNA variants in people from other pa

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Human genetics of leishmania infections

GWAS results provide firm confirmation for the importance of antigen presentation and the regulation of IFNγ in determining the outcome of Leishmania infections

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COPD-related modification to the airway epithelium permits intracellular residence of nontypeable haemophilus influenzae

Our findings indicate that COPD, cigarette smoke and macrolide antibiotics potentiate the susceptibility to persistent intracellular NTHi

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Systematic assessment of tissue dissociation and storage biases in single-cell and single-nucleus RNA-seq workflows

Systematic comparison of recovered cell types and their transcriptional profiles across the workflows has highlighted protocol-specific biase

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S. aureus colonization in healthy Australian adults receiving an investigational S. aureus 3-antigen vaccine

Based on descriptive analyses of this small study, S. aureus 3-antigen vaccine vaccination did not impact S. aureus acquisition or carriage

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A prospective study investigating gross motor function of children with cerebral palsy and GMFCS level II after long-term Botulinum toxin type A use

Children with Cerebral Palsy, Gross Motor Function level II treated at a young age with repeated doses of Botulinum Toxin A maintain or improve their functional motor level

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Pleural Plaques and the Risk of Lung Cancer in Asbestos-exposed Subjects

The presence of pleural plaques on radiologic imaging does not confer additional increase in the risk of lung cancer

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A cross-sectional examination of the clinical significance of autistic traits in individuals experiencing a first episode of psychosis

Results suggest that autism traits are associated with poorer clinical presentation in first-episode psychosis populations