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Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two familiesWe report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy-textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity. Post-mortem examination in two of the babies further revealed widespread ectasia and tortuosity of medium and large sized arteries, myocardial hypertrophy, rib and skull fractures.
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Investigating falls in adults with intellectual disability living in community settings and their experiences of post-fall care servicesThis study will determine the rate of falls among older adults with ID living in community based settings, which will assist to identify the extent of this problem
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Tumor penetrating peptides inhibiting MYC as a potent targeted therapeutic strategy for triple-negative breast cancersWe demonstrated the efficacy of FPPa-OmoMYC in inhibiting breast cancer growth when injected orthotopically in TNBC allografts
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Is immunisation education in midwifery degrees adequate?Midwifery university education is an important arena for developing future vaccine advocates
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Risk of Mortality into Adulthood According to Gestational Age at BirthTo quantify the independent risks of neonatal, postneonatal, 1 to 5 and 6 to 30 year mortality by gestational age and investigate changes in survival over time.
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ISPAD Clinical Practice Consensus Guidelines 2022: Assessment and management of hypoglycemia in children and adolescents with diabetesTim Jones MBBS DCH FRACP MD Co-head, Diabetes and Obesity Research Co-head, Diabetes and Obesity Research Areas of research expertise: Diabetes
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Down syndrome studies; the transition from secondary school to adulthood: Experiences and life outcomes for youth with an intellectual disability and their familiesHelen Jenny Keely Leonard Downs Bebbington MBChB MPH BApplSci (physio) MSc PhD MClinPsych/PhD Principal Research Fellow Head, Child Disability
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Global, regional, and national levels of neonatal, infant, and under-5 mortality during 1990-2013We generated updated estimates of child mortality in various age groups for 188 countries from 1970 to 2013.
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Otitis media at 6-monthly assessments of Australian First Nations children between ages 12–36 months: Findings from two randomised controlled trials of combined pneumococcal conjugate vaccinesIn remote communities of northern Australia, First Nations children with hearing loss are disproportionately at risk of poor school readiness and performance compared to their peers with no hearing loss. The aim of this trial is to prevent early childhood persisting otitis media (OM), associated hearing loss and developmental delay.