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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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COVID-19 Response and Lessons Learned on Dengue Control in BhutanCoronavirus disease 2019 (COVID-19) is an acute respiratory illness caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 initially was identified from a cluster of patients admitted with ‘pneumonia of unknown etiology’ in late December 2019 to hospitals in Wuhan, Hubei Province, China.
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10-Valent pneumococcal non-typeable H. influenzae protein D conjugate vaccine versus 13-valent pneumococcal conjugate vaccine as a booster dose to broaden and strengthen protection from otitis media in Australian Aboriginal children: study protocol18 months of age infants receiving 10-valent pneumococcal Haemophilus influenzae protein D conjugate vaccine will have higher antibody levels
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Clinical protocol for a longitudinal cohort study to identify markers of vaccine immunogenicity in newborn infants in the gambia and papua New GuineaImmunity is distinct in early life and greater precision is required in our understanding of mechanisms of early life protection to inform development of new pediatric vaccines
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Lessons from schools with high levels of support for students with type 1 diabetes: A qualitative studyThis project aimed to investigate how schools provide support for the psychosocial wellbeing and disease management of students with type 1 diabetes
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Epithelial Mesenchymal Transition in Respiratory Disease: Fact or FictionIn this translational review, the mechanisms, roles, and impact of epithelial-mesenchymal transition in chronic lung diseases are discussed
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Improving Vaccine-Induced Immunity: Can Baseline Predict Outcome?Baseline signatures might contribute to identifying interventional targets to be modulated prior to vaccination in order to improve vaccination responses
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Whole blood transcriptional responses of very preterm infants during late-onset sepsisBlood responses in very preterm infants with LOS are characterised by altered host immune responses that appear to reflect unbalanced immuno-metabolic homeostasis
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Airway Epithelial Cell Immunity Is Delayed During Rhinovirus Infection in Asthma and COPDWe propose that propensity for viral exacerbations of asthma and COPD relate to delayed expression of epithelial cell innate anti-viral immune genes
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Development of a referral pathway framework for foetal alcohol spectrum disorder in the PilbaraThe process of referral pathway development provided a service mapping and gapping exercise to facilitate service integration