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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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Demographic and clinical predictors of vitamin D status in pregnant women tested for deficiency in Western AustraliaThis study aimed to describe the vitamin D status of pregnant women in Western Australia and identify predictors of deficiency in pregnancy. A cross-sectional study was conducted using linked data from statewide administrative data collections.
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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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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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Sex differences between parental pregnancy characteristics and nonalcoholic fatty liver disease in adolescentsWe examined relationships between parental pregnancy-related characteristics and NAFLD in 1,170 adolescent offspring aged 17 years in Raine Cohort Study.
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Validating the rett syndrome gross motor scaleThe Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials
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Are low sun exposure and/or Vitamin D risk factors for type 1 diabetesEvidence supports that higher sun exposure and/or vitamin D sufficiency in pregnancy, or supplementation in early life, decreases type 1 diabetes risk
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Aboriginal and non-Aboriginal children in Western Australia carry different serotypes of pneumococci with different antimicrobial susceptibility profilesDifferences in pneumococcal serotypes, genotypes, and antimicrobial susceptibility between Aboriginal and non-Aboriginal children living in the same area