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Research

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Overview of all published mutations for the two Kabuki syndrome genes and point out possible mutation hot spots and strategies for molecular genetic testing

Research

Schizophrenia Spectrum Disorders and Autism Spectrum Disorder

We examine the level of comorbidity found between Autism spectrum disorder and Schizophrenia spectrum disorders at a clinical and trait level

Research

Whole genome sequencing reveals extensive community-level transmission of group A Streptococcus in remote communities

There was evidence of extensive transmission of group A Streptococcus both within households and across the community

Research

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

Existing quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome

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Maternal Work–Family Conflict and Psychological Distress: Reciprocal Relationships Over 8 Years

Employed mothers may benefit from policies and workplace practices that promote maternal well-being and reduce conflicts between employment and raising children

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The -308 bp TNF gene polymorphism influences tumor necrosis factor expression in leprosy patients in Bahia State, Brazil

TNF mRNA expression was higher in leprosy patients compared to endemic controls, but did not differ significantly between clinical subgroups

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A novel clinical prediction model for prognosis in malignant pleural mesothelioma using decision tree analysis

A simple, clinically relevant model to reliably discriminate patients at high and lower risk of death in patients with malignant pleural mesothelioma

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A scoping review of trans and gender diverse children and adolescents’ experiences of physical activity, sport, and exercise participation

This study investigated the potential of using SARS-CoV-2 viral Increasing young people's physical activity, along with their motivation and confidence to be active, is widely advocated for supporting desirable health outcomes. Trans and gender diverse (henceforth; trans) young people experience significant physical activity-related barriers compared to cisgender (i.e., an individual for whom gender identity and sex presumed at birth are in alignment) peers.

Research

Prospects for the future: supporting the elimination of rheumatic heart disease – a National Heart, Lung, and Blood Institute Workshop Proceedings

Jonathan Carapetis AM AM MBBS FRACP FAFPHM PhD FAHMS Executive Director; Co-Head, Strep A Translation; Co-Founder of REACH 08 6319 1000 contact@