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A novel BRD4-NUT fusion in an undifferentiated sinonasal tumor highlights alternative splicing as a contributing oncogenic factor in NUT midline carcinomaIn this study, we report the case of an adolescent NMC patient presenting with severe facial pain, proptosis and visual impairment due to a mass arising from...
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GFP-complementation assay to detect functional CPP and protein delivery into living cells.Efficient cargo uptake is essential for cell-penetrating peptide (CPP) therapeutics, which deliver widely diverse cargoes by exploiting natural cell...
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Protocol for the Care-IS Trial: a randomised controlled trial of a supportive educational intervention for carers of patients with high-grade glioma (HGG).This paper outlines the objectives of a randomised control trial that will be conducted to investigate primary carers of those with high-grade glioma.
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Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidenceA clinically significant history of fracture in combination with low bone densitometry findings is necessary for a diagnosis of osteoporosis in Rett Syndrome
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Stillbirth and neonatal death rates across time: The influence of pregnancy terminations and birth defects in a Western Australian population-based cohort studyChanges in clinical practice related to pregnancy terminations have played a substantial role in shaping stillbirth and neonatal death rates in WA
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Expanding the clinical picture of the MECP2 Duplication syndromePerinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome
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Perceived gender ratings for high and low scorers on the autism-spectrum quotient consistent with the extreme male brain account of autismThis study tested the 'Extreme Male Brain' theory & androgyny accounts of Autism spectrum disorder.
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Protocol for a study of the psychosocial determinants of health in early childhood among children with cystic fibrosisThis protocol outlines the study aims to investigate the causal effect of psychosocial functioning, parenting and attachment on physical health outcomes in...
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Minimizing Hypoglycemia in DiabetesHypoglycemia caused by treatment with a sulfonylurea, a glinide, or insulin coupled with compromised defenses against the resulting falling plasma glucose...
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Integrated analyses of zebrafish miRNA and mRNA expression profiles identify miR-29b and miR-223 as potential regulators of optic nerve regenerationZebrafish have the ability to regenerate damaged parts of their central nervous system (CNS) and regain functionality of the affected area.