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Research

Impact of biobanks on research outcomes in rare diseases: a systematic review

This 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 Australia

We 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 cohort

We 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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Effectiveness of pneumococcal conjugate vaccine against hospital admissions for pneumonia in Australian children

Reductions in pneumonia-coded hospital admissions in unvaccinated children predominated in non-Aboriginal children with low incidence of pneumonia

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A Survey of Infectious Diseases and Microbiology Clinicians in Australia and New Zealand About the Management of Staphylococcus aureus Bacteremia

Significant variation in practice, particularly for patients with a severe disease phenotype and antibiotic-resistant profile

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Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy

This 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 Australia

This 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 penetrance

Our findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling

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Challenges in Accurately Assessing Prenatal Alcohol Exposure in a Study of Fetal Alcohol Spectrum Disorder in a Youth Detention Center

Accurately assessing prenatal alcohol consumption is exceptionally challenging when assessed retrospectively as part of a FASD assessment for a young person sentenced to detention