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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesGenetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature".
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Timeliness and factors associated with rotavirus vaccine uptake among Australian Aboriginal and non-Aboriginal children: A record linkage cohort studyAboriginal children are at greater risk of rotavirus disease than non-Aboriginal children and delayed vaccine receipt is substantially higher
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Changing Prevalence of Lower Airway Infections in Young Children with Cystic FibrosisAspergillus species and P. aeruginosa are commonly present in the lower airways from infancy
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Hypertensive diseases of pregnancy predict parent-reported difficult temperament in infancyThese data suggest that the link between maternal hypertensive diseases of pregnancy and child behavioral development begins in the first year of life.
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Participation in population-based case-control studies: Does the observed decline vary by socio-economic status?An Australian study of childhood leukaemia (Aus-ALL) previously reported that control participation was positively associated with socio-economic status...
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Sense of control and wellbeing decades after exposure to blue asbestos at Wittenoom, Western AustraliaThe objective of this study was to examine the impact of the knowledge of past asbestos exposure on psychosocial health.
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Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trialWe investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.
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DETECT Schools Study Protocol: A Prospective Observational Cohort Surveillance Study Investigating the Impact of COVID-19 in Western Australian SchoolsAmidst the evolving COVID-19 pandemic, understanding the transmission dynamics of the SARS-CoV-2 virus is key to providing peace of mind for the community and informing policy-making decisions. While available data suggest that school-aged children are not significant spreaders of SARS-CoV-2, the possibility of transmission in schools remains an ongoing concern, especially among an aging teaching workforce. Even in low-prevalence settings, communities must balance the potential risk of transmission with the need for students' ongoing education.
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Acceptability of OP/Na swabbing for SARS-CoV-2: a prospective observational cohort surveillance study in Western Australian schoolsWhen the COVID-19 pandemic was declared, Governments responded with lockdown and isolation measures to combat viral spread, including the closure of many schools. More than a year later, widespread screening for SARS-CoV-2 is critical to allow schools and other institutions to remain open.
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Impact of Neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophreniaNeuritin 1, an activity-regulated gene with multiple roles in neurodevelopment & synaptic plasticity, is linked to a subtype of schizophrenia.