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Research
Refining nosology by modelling variation among facial phenotypes: The RASopathiesIn clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.
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Genome Sequence of a Lytic Staphylococcus aureus Bacteriophage Isolated from Breast MilkWe identified a double-stranded DNA (dsDNA) bacteriophage appearing to belong to Herelleviridae, genus Kayvirus. The bacteriophage, Biyabeda-mokiny 1, was isolated from breast milk using a clinical isolate of Staphylococcus aureus.
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The use of language in autism researchThe past three decades have seen a major shift in our understanding of the strong links between autism and identity. These developments have called for careful consideration of the language used to describe autism.
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Characterising the Early Presentation of Motor Difficulties in Autistic ChildrenThis study aimed to explore the rates of motor difficulties in children from the Australian Autism Biobank, and how early motor concerns impacted on children functionally.
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Factors Influencing Parental Acceptance of Trans Children and Young People: Findings from Trans PathwaysTrans youth are at high risk of mental health difficulties and negative life events. Strong parental support is highly protective however there is little understanding of what factors facilitate the process of parental understanding and acceptance of a child’s gender identity.
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Monitoring disease progression in childhood bronchiectasisBronchiectasis (not related to cystic fibrosis) is a chronic lung disease caused by a range of etiologies but characterized by abnormal airway dilatation, recurrent respiratory symptoms, impaired quality of life and reduced life expectancy.
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Diabetic Ketoacidosis at Onset of Type 1 Diabetes and Long-term HbA1c in 7,961 Children and Young Adults in the Australasian Diabetes Data NetworkThe relationship between diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes and long-term glycemic control varies between studies. We aimed, firstly, to characterize the association of DKA and its severity with long-term HbA1c in a large contemporary cohort, and secondly, to identify other independent determinants of long-term HbA1c.
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Spatio-temporal dynamics of three diseases caused by Aedes-borne arboviruses in MexicoThe intensity of transmission of Aedes-borne viruses is heterogeneous, and multiple factors can contribute to variation at small spatial scales. Illuminating drivers of heterogeneity in prevalence over time and space would provide information for public health authorities. The objective of this study is to detect the spatiotemporal clusters and determine the risk factors of three major Aedes-borne diseases, Chikungunya virus, Dengue virus, and Zika virus clusters in Mexico.
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Effective primary care management of type 2 diabetes for indigenous populations: A systematic reviewIndigenous peoples in high income countries are disproportionately affected by Type 2 Diabetes. Socioeconomic disadvantages and inadequate access to appropriate healthcare are important contributors.
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Descriptive contents analysis of ParticiPAte CP: a participation-focused intervention to promote physical activity participation in children with cerebral palsyParticiPAte CP is a participation-focused therapy intervention that is effective to increase perceived performance of physical activity participation goals in children with cerebral palsy. We aimed to characterise the contents of ParticiPAte CP using validated behaviour change frameworks.