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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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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.
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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
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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.
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Micronutrient intakes from food and supplements in Australian adolescentsWe assessed micronutrient intakes in adolescents to determine whether supplement use optimises intakes.
Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.
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Calcium and Vitamin D for obesity: review of randomized controlled trialsObesity often coexists with low calcium intake and vitamin D insufficiency.
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Changes in lung volume during spells in children with Tetralogy of Fallot under general anesthesiaTo describe the changes in end-expiratory lung volume and ventilation inhomogeneities during spells in three children with Tetralogy of Fallot.