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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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Global, regional, and national disability-adjusted life years (DALYs) for 306 diseases and injuries and healthy life expectancy (HALE) for 188 countriesThese summary measures can also be used to quantify the component of variation in epidemiology that is related to sociodemographic development.
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Pediatric Brain Tumors: Innovative Genomic Information Is Transforming the Diagnostic and Clinical Landscape.This article summarizes data from collaborative group and institutional trials that have advanced the science of pediatric brain tumors.
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Health of mothers of children with intellectual disability or autism spectrum disorder: a review of the literatureThe deficits associated with intellectual disability (ID) and autism spectrum disorder (ASD)place a burden on their co-residing families which may impact...
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Rheumatic heart disease in Indigenous children in northern Australia: Differences in prevalence and the challenges of screeningThis study compared regional differences in the prevalence of rheumatic heart disease in Indigenous Australian children, and describes the logistical and...
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Cross-presentation of cutaneous melanoma antigen by migratory XCR1+CD103− and XCR1+CD103+ dendritic cellsThis report provides new insight into the functional specialization within the broad network of dendritic cells that are responsible for skin immunosurveillance
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Supply of benzathine penicillin G: the 20-year experience in AustraliaReliable supplies of BPG are essential for delivering the recommended schedule of secondary prophylaxis for people living with RHD.
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Response to Comment on Lin et al. Risk Factors for Decline in IQ in Youth With Type 1 Diabetes Over the 12 Years From Diagnosis/Illness OnsetThis editorial response addresses each of the concerns raised by Lin et al. RE: Risk Factors for Decline in IQ in Youth With Type 1 Diabetes Over the 12...
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Grow up with your countryThis commentary discusses the keys to empowering individuals & families to navigate the health, education, employment & social systems & to access relevant...
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Defining the appropriate waiting time between multiple-breath nitrogen washout measurementsThis letter addresses the recommendations by the American Thoracic Society & European Respiratory Society in 2005, that patients must wait 15-60mins between...