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Research
Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotypePrevalence and determinants of sleep problems in Rett syndrome
Research
Expanding the clinical picture of the MECP2 Duplication syndromePerinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome
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Parental perspectives on the communication abilities of their daughters with Rett syndromeHow females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication
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Screening for rheumatic heart disease: Quality and agreement of focused cardiac ultrasound by briefly trained health workersAfter brief training, health workers with no prior experience in echocardiography can obtain adequate quality images and make a reliable assessment
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Alpha-1 antitrypsin mitigates the inhibition of airway epithelial cell repair by neutrophil elastaseFree NE activity is deleterious for epithelial homeostasis and support the hypothesis that proteases in the airway contribute to CF structural lung disease
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Adverse metabolic phenotype of adolescent girls with non-alcoholic fatty liver disease plus polycystic ovary syndrome compared with other girls and boysNon-alcoholic fatty liver disease (NAFLD) and polycystic ovary syndrome (PCOS) share risk associations of adiposity and insulin resistance.
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Strabismus, a preventable barrier to social participation: A short reportIsolated strabismus does not significantly impair visual functionality and has traditionally been considered a primarily cosmetic defect of little importance.
Research
Chemotherapy increases amenability of surgical resection in congenital glioblastomaBrain tumors presenting in infancy, especially during the first 6 months of life.
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Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: A systematic analysis for the Global Burden of Disease Study 2010Non-fatal health outcomes from diseases and injuries are a crucial consideration in the promotion and monitoring of individual and population health.
Research
Factors for Children's Receptive Vocabulary Development from Four to Eight Years in the Longitudinal Study of Australian ChildrenVariation in receptive vocabulary ability is associated with variation in children's school achievement, and low receptive vocabulary ability is a risk...