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The effects of maternal smoking on early mucosal immunity and sensitization at 12 months of ageIn this study, we examined the effects of maternal smoking as a major adverse exposure in early life, on mucosal immune function and allergen sensitization...
Research
Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
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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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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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Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual DisabilityThis cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability.
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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.