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Aboriginal and non-Aboriginal children in Western Australia carry different serotypes of pneumococci with different antimicrobial susceptibility profilesDifferences in pneumococcal serotypes, genotypes, and antimicrobial susceptibility between Aboriginal and non-Aboriginal children living in the same area
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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesGenetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature".
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The effect of CFTR modulators on structural lung disease in cystic fibrosisNewly developed quantitative chest computed tomography (CT) outcomes designed specifically to assess structural abnormalities related to cystic fibrosis (CF) lung disease are now available. CFTR modulators potentially can reduce some structural lung abnormalities. We aimed to investigate the effect of CFTR modulators on structural lung disease progression using different quantitative CT analysis methods specific for people with CF (PwCF).
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Validating the rett syndrome gross motor scaleThe Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials
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Blood micronutrients and DNA damage in childrenThis is the first study to examine the associations between a range of blood micronutrient levels and DNA damage in healthy children.
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Genetic studies of body mass index yield new insights for obesity biologyTo understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI),...
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Development of a job-exposure matrix (AsbJEM) to estimate occupational exposure to asbestos in AustraliaOccupational exposure data on asbestos are limited and poorly integrated in Australia so that estimates of disease risk and attribution of disease causation...
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Intussusception is associated with the detection of adenovirus C, enterovirus B and rotavirus in a rotavirus vaccinated populationIntussusception is associated with non-enteric adenovirus infections, and Enterovirus B infections
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Plasma retinol and total carotenes and fracture risk after long-term supplementation with high doses of retinolThe aim of this study was to investigate plasma retinol and total carotene concentrations in relation to fracture risk after long-term supplementation with...
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Family satisfaction following spinal fusion in Rett syndromeFamilies participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...