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Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of lifeInvestigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder
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Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent DecadesImproved survival for children born with Down syndrome over the last 60 years has occurred incrementally, but disparities still exist
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Respiratory viruses in young South African children with acute lower respiratory infections and interactions with HIVRV-A and RV-C are endemic in South African children and HIV infection may be protective against RSV and bronchiolitis.
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Knowledge translation lessons from an audit of Aboriginal Australians with acute coronary syndrome presenting to a regional hospitalThis audit is used as a case study of translating knowledge processes in order to identify the factors that support equity-oriented knowledge translation.
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Lipidomics reveals associations of phospholipids with obesity and insulin resistance in young adultsLipidomic biomarkers associated with obesity and IR using plasma samples from a population-based cohort of young adults
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Gross motor performance in children prenatally exposed to alcohol and living in remote AustraliaA higher than expected proportion of children with fetal alcohol spectrum disorders had gross motor scores that indicated impairment and need for therapy
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Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humansOur data demonstrate a causal relationship between activating Pik3ca mutations and the genesis of venous malformations
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Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down SyndromeWe investigated parental observations to identify QOL domains in children with Down Syndrome and determined whether domains differed between children and teens.
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Evaluation of impact of 23 valent pneumococcal polysaccharide vaccine following 7 valent pneumococcalThe impact of the 23vPPV booster on IPD incidence among Australian Indigenous children is unclear from regional reports of small case numbers.
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Mapping mammalian cell-type-specific transcriptional regulatory networks using KD-CAGE and ChIP-seq data in the TC-YIK cell line.Examining the overlap between genes perturbed in the KD-CAGE experiments and genes with a ChIP-seq peak within 50 kb of their promoter, we identified direct...