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Research
The common BDNF polymorphism may be a modifier of disease severity in Rett syndromeRett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).
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Investigating genotype-phenotype relationships in Rett syndrome using an international data setThis study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
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The course and prognostic capability of motor difficulties in infants showing early signs of autismDelays within the motor domain are often overlooked as an early surveillance marker for autism. The present study evaluated motor difficulties and its potential as an early predictive marker for later autism likelihood in a cohort of infants showing early behavioral signs of autism aged 9-14 months. The motor domain was evaluated using the motor subscales of the Mullen Scales of Early Learning at baseline, and at a 6-month follow-up.
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Content validation of the Quality of Life Inventory—DisabilitySatisfactory content validity is reported, where ongoing consumer feedback shaped the dataset from which the final items were selected
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Perinatal risk factors associated with skin infection hospitalisation in Western Australian Aboriginal and Non-Aboriginal childrenWe have quantified the relative influence of perinatal risk factors associated with skin infection hospitalisations in WA children
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Assessing the burden of laboratory-confirmed respiratory syncytial virus infection in a population cohort of Australian children through record linkageRespiratory syncytial virus is pervasive across multiple severity levels and diagnoses. Vaccines targeting children <3 months must be prioritized
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Progressive increase of FcεRI expression across several PBMC subsets is associated with atopy and atopic asthma within school-aged childrenThe expression pattern of FcεRI on DC and basophils differentiates asthmatic from non-asthmatic atopic children
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Migration and work in postwar Australia: mortality profile comparisons between Australian and Italian workers exposed to blue asbestos at Wittenoom330,000 Italians arrived in Australia between 1945 and 1966, many on assisted passage schemes where the worker agreed to a 2 year unskilled employment contract.
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Bipolar disorder in children and adolescents: diagnostic inpatient rates from 2000 to 2013 in GermanyThe rate of Bipolar Disorder as a discharge diagnosis in German minors has increased significantly, consistently exceeding the general trend for a rise in rates for mental disorders
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Health of mothers of children with intellectual disability or autism spectrum disorder: a review of the literatureThe deficits associated with intellectual disability (ID) and autism spectrum disorder (ASD)place a burden on their co-residing families which may impact...