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Functional abilities in children and adults with the CDKL5 disorderAlthough abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities
Research
Asbestos exposure and histological subtype of malignant mesotheliomaPathological malignant mesothelioma subtype is associated with the type of asbestos or the attributes of asbestos exposure
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Analytical bias in the measurement of serum 25-hydroxyVitamin D concentrations impairs assessment of Vitamin D statusThis publication demonstrated considerable differences in the measurement of 25-hydroxyvitamin D concentrations compared with a certified laboratory, even...
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Experience of gastrostomy using a quality care framework: The example of rett syndromeGastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families
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Risk of cancer among children with birth defects: A novel approachThis novel approach aimed to prevent inflated hazard ratios arising from reverse causation, and allow identification of associations beyond those already...
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The trajectories of sleep disturbances in Rett syndromeThis paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...
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Psychosocial characteristics and predictors of health-care use in families of young children with cystic fibrosis in Western AustraliaThis study aimed to identify psychosocial predictors in cystic fibrosis that may inform intervention strategies.
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New genetic loci link adipose and insulin biology to body fat distributionPathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing...
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Longitudinal bone mineral content and density in Rett syndrome and their contributing factorsBone mass and density are low in females with Rett syndrome.
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Confirmation of childhood acute lymphoblastic leukemia Variants, ARID5B and IKZF1, and interaction with parental environmental exposuresThe polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology.