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Research
The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceThe Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
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Exploring quality of life of children with cerebral palsy and intellectual disability: What are the important domains of life?An estimated half of all children with cerebral palsy also have comorbid intellectual disability, the domains of QOL for these children are not well understood
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Effectiveness of a 3 + 0 pneumococcal conjugate vaccine schedule against invasive pneumococcal disease among a birth cohort of 1.4 million children in AustraliaOur population-based cohort study demonstrates that >90% coverage in the first year of a universal 3 + 0 PCV program provided high population-level protection
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Ion channel modulator DPI-201-106 significantly enhances antitumor activity of DNA damage response inhibitors in glioblastomaGlioblastoma, a lethal high-grade glioma, has not seen improvements in clinical outcomes in nearly 30 years. Ion channels are increasingly associated with tumorigenesis, and there are hundreds of brain-penetrant drugs that inhibit ion channels, representing an untapped therapeutic resource. The aim of this exploratory drug study was to screen an ion channel drug library against patient-derived glioblastoma cells to identify new treatments for brain cancer.

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Healthway supports innovative mental health, physical activity research at The KidsThe Kids Research Institute Australia and The University of Western Australia researchers have been awarded more than $1 million in funding from Healthway, for projects to improve the mental health of LGBTQA+ young people, encourage early physical activity in childcare centres and create healthier local environme
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Down syndrome studies; the transition from secondary school to adulthood: Experiences and life outcomes for youth with an intellectual disability and their familiesHelen Jenny Keely Leonard Downs Bebbington MBChB MPH BApplSci (physio) MSc PhD MClinPsych/PhD Principal Research Fellow Program Head, Development
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Longitudinal bone mineral content and density in Rett syndrome and their contributing factorsBone mass and density are low in females with Rett syndrome.
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Assessment of on-time vaccination coverage in population subgroups: A record linkage cohort studyOn-time coverage of the 2-4-6 month schedule is only 50-60% across specific population subgroups representing a significant avoidable public health risk
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Modelling the seasonal epidemics of respiratory syncytial virus in young childrenThis paper describes a mathematical model used to predict when an epidemic of respiratory syncytial virus (RSV) will occur so that preventive measures, such...
Research
Medulloblastoma Down Under 2013: a report from the third annual meeting of the International Medulloblastoma Working GroupMedulloblastoma is curable in approximately 70 % of patients. Over the past decade, progress in improving survival using conventional therapies has stalled...