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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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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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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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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...
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Maternal Use of Folic Acid and Other Supplements and Risk of Childhood Brain TumorsInterest in a possible protective effect of maternal vitamin use before or during pregnancy against childhood brain tumors (CBT) and other childhood cancers...
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Participation in population-based case-control studies: Does the observed decline vary by socio-economic status?An Australian study of childhood leukaemia (Aus-ALL) previously reported that control participation was positively associated with socio-economic status...
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Sense of control and wellbeing decades after exposure to blue asbestos at Wittenoom, Western AustraliaThe objective of this study was to examine the impact of the knowledge of past asbestos exposure on psychosocial health.
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Gender-specific differences in adipose distribution and adipocytokines influence adolescent nonalcoholic fatty liver diseaseNonalcoholic fatty liver disease (NAFLD) is a predominantly adult-diagnosed disorder. Knowledge regarding the epidemiology, phenotype, and metabolic risk...
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Neck/shoulder pain, habitual spinal posture and computer use in adolescents: The importance of genderThe study aimed to examine the influence of gender on relationships between computer use, habitual posture and neck/shoulder pain.
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Association of an allele on chromosome 9 and abdominal aortic aneurysmAbdominal aortic aneurysm (AAA) has been recognized as a multi-factorial disease with both genetic and environmental risk factors.