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NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
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Nine out of ten young people in detention found to have severe neuro-disabilityNine out of ten incarcerated youth examined by The Kids researchers as part of a ground-breaking study had some form of neuro-disability.
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Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measureInitial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability
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Role of viral and bacterial pathogens in causing pneumonia among Western Australian children: A case-control study protocolPneumonia is the leading cause of childhood morbidity and mortality globally.
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The clinical utility of lung clearance index in early cystic fibrosis lung disease is not impacted by the number of multiple-breath washout trialsThis study aimed to determine if relationships between LCI and clinical outcomes of CF lung disease differ when only two acceptable MBW trials are assessed.
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Persistent activation of interlinked type 2 airway epithelial gene networks in sputum-derived cells from aeroallergen-sensitized symptomatic asthmaticsOur findings provide new insight into the molecular mechanisms operative at baseline in the airway mucosa in atopic asthmatic with natural aeroallergen exposure
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Protocol for Pertussis Immunisation and Food Allergy (PIFA): a case-control study of the association between pertussis vaccination in infancyWe therefore speculate that removal of wP from the vaccine schedule contributed to the observed rise in IgE-mediated food allergy among Australian infants
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MedulloblastomaMedulloblastoma is a highly malignant small round blue cell tumor of the posterior fossa
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Feasibility of a commercial smartphone application for dietary assessment in epidemiological research and comparison with 24-h dietary recallsOur study tested the relative validity of a smart phone app for uses as an epidemiological dietary assessment tool, compared with a standard assessment method.
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Telehealth for Diagnosis of Hearing LossTelehealth offers unique opportunities for providing access to hearing healthcare ser- vices to underserved populations