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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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Links2HealthierBubs' cohort study: Protocol for a study on the safety, uptake and effectiveness of influenza and pertussis vaccines among pregnant Australian womenMulti-jurisdictional cohort of mother-infant pairs to measure the uptake, safety and effectiveness of antenatal IIV and dTpa vaccines in three Australian jurisdictions
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Impact of heart disease on maternal, fetal and neonatal outcomes in a low-resource settingOccult maternal heart disease may be responsible for a substantial proportion of adverse pregnancy outcomes in low-resource settings
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Developmental vitamin D deficiency produces behavioral phenotypes of relevance to Autism in an animal modelHere we investigate these features in an animal model related to autism spectrum disorder - the DVD-deficient rat
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Comparing adolescent and parent reports of externalizing problems: A longitudinal population-based studySubstance use, depression and low school motivation impacted on discrepancy in externalizing behaviour scores for 14-year-old male adolescents and their parents
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Single-breath washout and association with structural lung disease in children with cystic fibrosisAcinar ventilation inhomogeneity measured by single-breath washout was not associated with structural lung disease on CT
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Exercise Management for Young People With Type 1 Diabetes: A Structured Approach to the Exercise ConsultationThis review provides a structured approach to assist in formulating person-specific exercise management plans for young people with T1D
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Survival and mortality in cerebral palsy: Observations to the sixth decade from a data linkage study of a total population register and National Death IndexSince 1990 mortality for those with severe cerebral palsy in Western Australia has tended to shift from childhood to early adulthood
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Epigenetic Age Acceleration in Adolescence Associates with BMI, Inflammation, and Risk Score for Middle Age Cardiovascular DiseaseAccelerated epigenetic age in adolescence was associated with inflammation, BMI measured 5 years later, and probability of middle age cardiovascular disease
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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