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Research
“We are in this together”: Experiences of relationship satisfaction in couples raising a child with autism spectrum disorderCouples can be supported in these key areas to strengthen their relationship to serve as a source of resilience for families with a child with ASD
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Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 LocusIn about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.
Research
Viewpoints on what is important to maintain relationship satisfaction in couples raising a child with autism spectrum disorderCouples should be supported to strengthen communication processes and work in partnership to raise their child with ASD through family-centred interventions
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Network using Michaelis–Menten kinetics: constructing an algorithm to find target genes from expression dataWe derived a simple ordinary differential equation-based model using Michaelis–Menten Kinetics to process the microarray data
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Rheumatic heart disease: Tools for implementing programmesThis article discusses the World Health Organization program for monitoring & managing rheumatic heart disease.
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Absence of germline mutations in BAP1 in sporadic cases of malignant mesotheliomaMalignant mesothelioma (MM) is a uniformly fatal tumour caused predominantly by exposure to asbestos.
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Consumer and community involvement in health and medical research: evaluation by online survey of Australian training workshops for researchersThe effect that attending a consumer and community participation had on their awareness of and attitudes to consumer and community involvement
Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.
Research
The AEDI: From Research to PolicyHere we summarise some recent research using the AEDI data and show how the Fraser Mustard Centre is using such research to help inform policy-makers.