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Research

Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.

Research

Factors influencing public perceptions of child neglect: A mixed methods study

More than 1 in 5 children experience neglect, exposing them to several adverse consequences. Children with intellectual disability experience additional neglect related challenges. Public perceptions significantly influence the identification, intervention, and prevention of child neglect. 

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Goal Motives, Mental Contrasting With Implementation Intentions, and the Self-Regulation of Saving Goals: A Longitudinal Investigation

We investigated howautonomous and controlled motives for saving money contribute longitudinally to selfregulatory coping, goal progress, and psychological need satisfaction/frustration. We also investigated whether mental contrasting with implementation intentions (MCII) facilitates saving through interactions with controlled goal motives.

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Differences in stroke risk and cardiovascular mortality for Aboriginal and other Australian patients with atrial fibrillation

Stroke risk and cardiovascular mortality are markedly higher for Aboriginal than non-Aboriginal patients with atrial fibrillation, particularly for patients under 60

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Confounding effects of gavage in mice: Impaired respiratory structure and function

It is therefore clear that gavage can have significant impacts on experimental animals in terms of their stress response and overall morbidity and mortality

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Rheumatic heart disease in pregnancy: Profile of women admitted to a Western Australian tertiary obstetric hospital

This retrospective study assessed maternal and perinatal outcomes for women with rheumatic heart disease admitted to the largest tertiary obstetric hospital

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Higher frequency of vertebrate-infecting viruses in the gut of infants born to mothers with type 1 diabetes

We demonstrate a distinct gut virome profile in infants of mothers with type 1 diabetes, which may influence health outcomes later in life

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Advances in Exercise, Physical Activity, and Diabetes

We screened more than 750 potentially eligible titles on PubMed and other common search engines for manuscripts on “exercise and diabetes”

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Misgendering and experiences of stigma within health care settings for transgender individuals

Misgendering within the health care system can significantly affect the mental and physical health of transgender individuals

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Germline Elongator mutations in Sonic Hedgehog medulloblastoma

Genetic predisposition to proteome instability may be a determinant in the pathogenesis of paediatric brain cancers