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Impact of biobanks on research outcomes in rare diseases: a systematic reviewThis review made the important observation that registries with biobanks had the function of both stand-alone registries and stand-alone rare disease biobanks
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Silver Russel syndrome in an aboriginal patient from AustraliaWe report a 4-year-old Australian Aboriginal girl who was born at 32 weeks gestation with features strongly suggestive of Silver-Russell syndrome
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Early developmental risk for subsequent childhood mental disorders in an Australian population cohortWe examined associations between developmental vulnerability profiles determined at the age of 5 years and subsequent childhood mental illness between ages 6 and 13 years in an Australian population cohort.
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Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophyThis study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives
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The Great Recession and Children’s Mental Health in AustraliaThis paper analyzes the effects of “shocks” to community-level unemployment expectations, induced by the Great Recession, on children’s mental well-being
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Atypical nested 22q11.2 duplications are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetranceOur findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling
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Risks and obstacles in implementing a public health approach to the wellbeing and protection of childrenWe have also been engaged with and excited by the attempts to adopt a public health approach to the care and protection of children as described throughout this book
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Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?Mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables
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Challenges in Accurately Assessing Prenatal Alcohol Exposure in a Study of Fetal Alcohol Spectrum Disorder in a Youth Detention CenterAccurately assessing prenatal alcohol consumption is exceptionally challenging when assessed retrospectively as part of a FASD assessment for a young person sentenced to detention
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Nicotine and other potentially harmful compounds in "nicotine-free" e-cigarette liquids in AustraliaThe aim of our investigation was to assess the chemical composition of a range of e-liquids available in Australia, focusing on nicotine and other potentially harmful compounds