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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Overview of all published mutations for the two Kabuki syndrome genes and point out possible mutation hot spots and strategies for molecular genetic testing
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Properties of the DASS-21 in an Australian Community Adolescent PopulationThis study evaluated for a multifactor structure in the DASS-21 teenagers and the specifics of the 3 subscales for teenagers in general at different stages.
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Mannitol challenge testing for asthma in a community cohort of young adultsWe aimed to quantify the diagnostic utility of mannitol challenge testing for asthma in a community cohort and a symptomatic wheezing subset of this cohort.
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Quality of Life and Psychosocial Well-Being in Youth With Neuromuscular Disorders Who Are Wheelchair Users: A Systematic ReviewTo investigate quality of life (QOL) and psychosocial well-being in youth with neuromuscular disorders (NMDs) who are wheelchair users.
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Brief Report: An Exploratory Study of the Diagnostic Reliability for Autism Spectrum DisorderWe conducted a study that examined the concordance of diagnoses between a multidisciplinary assessment team and a range of clinicians in Australia.
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Ultraviolet radiation, Vitamin D and the development of obesity, metabolic syndrome and type-2 diabetesEmerging findings suggest a protective role for ultraviolet radiation (UVR) and sun exposure in reducing the development of obesity and cardiometabolic dysfunction, but more epidemiological and clinical research is required that focuses on measuring the direct associations and effects of exposure to UVR in humans.
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Associations of parental food-choice control and use of food to soothe with adiposity in childhood and adolescenceHigher parental control over food choice was associated with lower adiposity, but use of food to soothe was not associated with adiposity at ages 7 and 15
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Pulmonary microRNA profiles identify involvement of Creb1 and Sec14l3 in bronchial epithelial changes in allergic asthmaIn this study, we aimed to use microRNAs-which are critical regulators of signaling cascades-to identify so far uncharacterized asthma pathogenesis pathways
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Neuropsychological Aspects of Prevention and Intervention for Fetal Alcohol Spectrum Disorders in AustraliaBarriers in addressing FASD in Australia include a drinking culture and large populations living in regional or remote communities with high risk populations.
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Graphomotor skills in children with prenatal alcohol exposure and fetal alcohol spectrum disorder: A population-based study in remote AustraliaFew studies have examined graphomotor skills in children with prenatal alcohol exposure (PAE) or fetal alcohol spectrum disorder (FASD)