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Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortThe purpose of this study was therefore to comprehensively examine the genetic architecture of Adams-Oliver syndrome in an extensive cohort
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Navigating 'the system' to find supports and services for people with developmental disability: How can research help make this a better journey?Parents navigate what can be a confusing world of early intervention services, residing in the health, disability and/or education sectors
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Cohort Profile: The New South Wales Child Development Study (NSW-CDS)-Wave 2 (child age 13 years)The New South Wales Child Development Study was established to enable a life course epidemiological approach to identifying risk and protective factors
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Incidence of and risk factors for hospitalisations due to vascular complications: A population-based type 1 diabetes cohort (n=1316) followed into early adulthoodDetermining the incidence of hospitalisations and risk factors for vascular complications experienced during early adulthood in patients with childhood T1D
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Physician training programs significantly improve diagnosis in cases coded as anaphylaxis over time: A major factor compounding time-trend data?We conducted an investigation of all cases coded as anaphylaxis presenting to the main tertiary PED in Perth, Australia, where all coding is performed by staff.
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Production of IgG antibodies to pneumococcal polysaccharides is associated with expansion of ICOS+ circulating memory T follicular-helper cells which is impaired by HIV infectionDysfunction of T follicular-helper cells is a possible cause of impaired germinal centre and IgG antibody responses in individuals with HIV
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ERS technical standard on bronchial challenge testing: General considerations and performance of methacholine challenge testsThis international task force report updates general considerations for bronchial challenge testing and the performance of the methacholine challenge test.
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Evolving Identification of Blood Cells Associated with Clinically Isolated Syndrome: Importance of Time since Clinical Presentation and Diagnostic MRIThis study aimed to identify a CIS peripheral blood signature that may provide clues for potential immunomodulatory approaches early in disease
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An exposome perspective: Early-life events and immune development in a changing worldHere we review the historical origins of exposome research and define a new concept, the metaexposome
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Prevalence and profile of Neurodevelopment and Fetal Alcohol Spectrum Disorder (FASD) amongst Australian Aboriginal children living in remote communitiesEarly intervention services are needed to support developmentally vulnerable children in remote communities.