Search
Research
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesGenetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature".
Research
Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-beingFor mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing
Research
Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric TraitsOur results demonstrate the value of sex-specific GWAS to unravel the sexually dimorphic genetic underpinning of complex traits.
Research
Family satisfaction following spinal fusion in Rett syndromeFamilies participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...
Research
Intussusception is associated with the detection of adenovirus C, enterovirus B and rotavirus in a rotavirus vaccinated populationIntussusception is associated with non-enteric adenovirus infections, and Enterovirus B infections
Research
Plasma retinol and total carotenes and fracture risk after long-term supplementation with high doses of retinolThe aim of this study was to investigate plasma retinol and total carotene concentrations in relation to fracture risk after long-term supplementation with...
Research
Cohort Profile: The ORIGINS pregnancy and birth cohortDesiree Dr Jackie Susan Lisa Zenobia Silva Davis Prescott Gibson Talati MBBS, FRACP, MPH, PhD BSc (Hons), PGradDipHlthProm, PhD MBBS BMedSci PhD
Research
Comorbidities and quality of life in children with intellectual disabilityMany children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met.
Research
Progression of early structural lung disease in young children with cystic fibrosis assessed using CTCross-sectional studies implicate neutrophilic inflammation and pulmonary infection as risk factors for early structural lung disease in infants and young...
Research
Increasing incidence of malignant mesothelioma after exposure to asbestos during home maintenance and renovationThe objective of this study was to determine trends in incidence of malignant mesothelioma (MM) caused by exposure to asbestos during home maintenance and...