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A phenotype centric benchmark of variant prioritisation toolsWe hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.
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Cerebral palsy and genomics: an international consortiumAccumulating evidence of the role of genetic variation in CP aetiology suggests that individuals with CP should undergo genomic testing as part of their diagnostic workup
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Does otitis media in early childhood affect later behavioural development? Results from the Western Australian Pregnancy Cohort (Raine) StudyThe relationship between early life episodes of otitis media and later behavioural development with adjustment for confounders.
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Moraxella catarrhalis Restriction-Modification Systems Are Associated with Phylogenetic Lineage and DiseaseWe observed an association between Type III DNA methyltransferase presence and Otitis Media-associated middle ear isolates
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Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency DisorderOur study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy
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What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analysesThere remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome
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Epigenetic dysregulation of host gene expression in Toxoplasma infection with specific reference to dopamine and amyloid pathwaysOur results provide a possible functional link between Toxoplasma gondii infection and congenital/early life and adult neurological clinical signs
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Teleaudiology services for rehabilitation with hearing aids in adults: A systematic reviewThis review provides up-to-date evidence for teleaudiology hearing aid services in new and experienced hearing aid users in different practice settings
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Topical antibiotics with steroids for chronic suppurative otitis mediaTo assess the effects of adding a topical steroid to topical antibiotics in the treatment of people with chronic suppurative otitis media
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Cellular and molecular mechanisms of vitamin D in food allergyEpidemiological evidence from the past decade suggests a role of vitamin D in food allergy pathogenesis