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The Human Phenotype Ontology in 2021The Human Phenotype Ontology was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas.
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The Development and Feasibility of a Manualised Therapeutic Playgroup for Children with Developmental DelayPlaygroups are widely used throughout the Australian community yet understanding of their efficacy is hindered by inconsistent playgroup definitions and practice principles. This study aimed to develop, implement and evaluate the feasibility of a manualised therapeutic playgroup for children with developmental delay and their families using a three step process.
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Minimal structural lung disease in early life represents significant pathologyIn this cohort, as compared with the AREST CF cohort, the authors highlight the limited correlation between infection and inflammation with lung function and structural impairment, and that this was mainly explained by the mild changes identified in lung function and on chest CT scan.
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Shade coverage, ultraviolet radiation and children’s physical activity in early childhood education and careThe provision of shade, particularly through natural forms such as tree canopy, is an important sun protection strategy and enabler of outdoor time
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An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorderOverall, we found that the regulatory variants in autism spectrum disorder cases were enriched in ASD-risk genes and genes involved in fetal neurodevelopment
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Measuring early childhood development in multiple contexts: the internal factor structure and reliability of the early Human Capability Index in seven countriesFindings support the aims of the early Human Capability Index in being adaptable and applicable for use within a range of low and middle income countries
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General practitioners’ perceptions of their communication with Australian Aboriginal patients with acquired neurogenic communication disordersGPs report difficulty recognising acquired communication disorders and their lack of prioritising assessment and treatment of communication ability after brain injur
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Early-life exposure to electronic cigarettes: cause for concernThere are a multitude of ways that, with respect to early-life exposures and health, electronic nicotine delivery systems are a cause for concern
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A Qualitative Exploration of Electronic Image Sharing Among Young People: Navigating the Issues of Conformity, Trust, Intention, and ReputationThis research sought to explore the main factors affecting young people's image-sharing behaviors, particularly in the context of peer relationships and norms
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Harmonised collection of data in youth mental health: Towards large datasetsThe use of this core set of data will facilitate the pooling of psychopathological and neurobiological data into large datasets