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Research
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
Research
Predicting disease progression in cystic fibrosisComprehensive scores incorporating clinical, lung function, imaging and laboratory data will become essential in the future for predicting disease progression and for use in clinical trials
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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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Low positive predictive value of International Classification of Diseases, 10th Revision codes in relation to rheumatic heart disease: a challenge for global surveillanceWe outline a series of research initiatives to improve identification of RHD in administrative data thereby contributing to monitoring the RHD burden globally
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Clinical Ecology-Transforming 21st-Century Medicine with Planetary Health in MindThe grand, interconnected challenges of our time demands that all of medicine be viewed from an ecological perspective
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Apgar score and risk of autismThis study suggests that low Apgar score is associated with higher risk of autism spectrum disorder, and in particular autistic disorder
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Impact of Micronutrient Status during Pregnancy on Early Nutrition ProgrammingGlobally and even in high-income countries where a balanced diet is generally accessible, an inadequate maternal micronutrient status is common
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Baseline incidence of adverse birth outcomes and infant influenza and pertussis hospitalisations prior to the introduction of influenza and pertussis vaccinationThese baseline data are essential to assess the safety and effectiveness of influenza and pertussis vaccinations in pregnant women from the NT
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A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorderThis study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder