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CDKL5 variants: Improving our understanding of a rare neurologic disorderProviding new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.
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Toxoplasma gondii infection is associated with mitochondrial dysfunction in-vitroOur results show perturbation of host mitochondrial function following T. gondii infection that likely impacts on pathogenesis of disease.
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Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorderASD's are complex, pervasive and heterogeneous neurodevelopmental conditions with varying conditions, trajectories, significant male bias and unknown etiology.
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Visualisation of Multiple Tight Junctional Complexes in Human Airway Epithelial CellsApically located tight junctions in airway epithelium perform a fundamental role in controlling macromolecule migration through paracellular spaces.
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Associations between cardiovascular disease and its risk factors with hearing loss—A cross-sectional analysisWe investigate the relationship between hearing loss and cardiovascular disease risk factors.
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What are the position and power of supermarkets in the Australian food system, and the implications for public health? A systematic scoping reviewThis review synthesized the literature that describes the position and power of supermarkets in the Australian system, and the implications for public health.
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Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cellsThis study assessed an alternative approach, using a small scale halide assay that can be adapted for a personalized high throughput setting to analyze CFTR function of pAEC.
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Common and differential factors associated with abstinence and poly drug use among Australian adolescentsThe aim of this study was to identify factors associated with compliance with recommendation for zero use of tobacco, alcohol and cannabis, and their use.
We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.
We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.