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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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“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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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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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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Measuring early childhood development with The Early Human Capability Index (eHCI): a reliability and validity study in ChinaWith the importance of early childhood development more recognized by the international society, low-cost and cross-culturally comparable measures of early childhood development is in great demand, both in China and worldwide. In this study, we aim to test the psychometrics of the Chinese version of The Early Human Capability Index (eHCI), which is designed as a measurement for school readiness in large population.
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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 human milk microbiome is minimally associated with breastfeeding practicesThe human milk microbiome is dominated by typical oral and skin bacteria, suggesting that bacterial communities from the infant mouth and maternal skin contribute to the development of the human milk microbiome. It is postulated that breastfeeding characteristics, such as breastfeeding frequency and duration, could lead to different levels of exposure to oral and skin bacteria, and subsequently, altered bacterial profiles in human milk.
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Process evaluation of a randomised controlled trial intervention designed to improve rehabilitation services for Aboriginal Australians after brain injury: the Healing Right Way TrialHealing Right Way (HRW) aimed to improve health outcomes for Aboriginal Australians with stroke or traumatic brain injury by facilitating system-level access to culturally secure rehabilitation services. Using a stepped-wedge randomised controlled trial design, a two-pronged intervention was introduced in four rural and four urban hospitals, comprising cultural security training for staff and training/employment of Aboriginal Brain Injury Coordinators to support Aboriginal patients for 6-months post-injury.