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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...
Research
Closed Loop Study – Day and Night Feasibility StudyA Closed-Loop System will potentially have a major impact upon acute and chronic complications of diabetes as well as upon their quality of life.
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Validity of using a semi-automated screening tool in a systematic review assessing non-specific effects of respiratory vaccinesThe abstract screening process of systematic reviews can take thousands of hours by two researchers. We aim to determine the reliability and validity of Research Screener, a semi-automated abstract screening tool within a systematic review on non-specific and broader effects of respiratory vaccines on acute lower respiratory infection hospitalisations and antimicrobial prescribing patterns in young children.
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Developmental trends in young children’s device-measured physical activity and sedentary behaviourKnowledge of developmental trends in meeting age-specific 24-hour movement behaviour guidelines is lacking. This study describes developmental trends in device-measured physical activity and sedentary time over a three-year period among Western Australian children aged two to seven years, including differences between boys and girls.
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Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
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Association between respiratory syncytial viral disease and the subsequent risk of the first episode of severe asthma in different subgroups of high-risk Australian children: a whole-of-population-based cohort studyTo determine the contribution of RSV to the subsequent development of severe asthma in different subgroups of children at risk of severe RSV disease.
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Tracking of Vitamin D status from childhood to early adulthood and its association with peak bone massThere are moderate associations between vitamin D status measured in prepuberty, adolescence, and early adulthood
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Optical coherence tomography-based contact indentation for diaphragm mechanics in a mouse model of transforming growth factor alpha induced lung diseaseThis study tested the utility of optical coherence tomography-based indentation to assess mechanical properties of respiratory tissues in disease
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Association between prenatal alcohol exposure and craniofacial shape of children at 12 months of ageTo examine the association between dose, frequency, and timing of prenatal alcohol exposure and craniofacial phenotype in 12-month-old children.
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No population bias to left-hemisphere language in 4-year-olds with language impairmentAn apparent paradox in the field of neuropsychology is that people with atypical cerebral lateralization do not appear to suffer any cognitive disadvantage,...