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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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Case report: congenital intraventricular meningioma demonstrated with fetal MRICongenital intracranial meningiomas are rare lesions. We present a case of congenital intraventricular cystic meningioma, initially characterized with fetal MRI and confirmed postnatally with histopathology. To our knowledge, this is the first in vivo description of a congenital meningioma with fetal MRI. The fetal MRI was able to characterize the lesion as an atypical intraventricular mass which was separate from the choroid plexus, differentiating the mass from a choroid plexus neoplasm.
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Measuring skeletal muscle morphology and architecture with imaging modalities in children with cerebral palsy: a scoping reviewTo investigate the use of ultrasound and magnetic resonance imaging (MRI) methodologies to assess muscle morphology and architecture in children with cerebral palsy (CP).
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Improving equity through school leadership and student wellbeing. 2021. ACEL Monograph #61 - ‘The William Walker Oration 2021Citation: Cross D. Improving equity through school leadership and student wellbeing. 2021. ACEL Monograph #61 - ‘The William Walker Oration 2021.
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A broad autism phenotype expressed in facial morphologyThese data provide the first evidence for a broad autism phenotype expressed in a physical characteristic
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Raising strong, solid Koolunga: Values and beliefs about early child development among Perth's Aboriginal communityWe detail the unique findings from an Aboriginal early child development research project with a specific focus on the Nyoongar/Aboriginal community of Perth
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Online self-compassion training to improve the wellbeing of youth with chronic medical conditions: Protocol for a randomised control trialThe Self-Compassion Online program could provide a scalable solution for improving psychological outcomes and quality of life among youth with chronic illness
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MK2 inhibition induces p53-dependent senescence in glioblastoma cellsIn response to DNA damaging chemotherapy, targeting MK2 in p53-mutated cells produces a phenotype that is distinct from the p53-deficient phenotype
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Priorities for improved management of acute rheumatic fever and rheumatic heart diseaseThe results suggest that timely injection and patient education are priorities for managing ARF and RHD, particularly focusing on child-to-adult transition care.