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Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cellsThis study assessed an alternative approach, using a small scale halide assay that can be adapted for a personalized high throughput setting to analyze CFTR function of pAEC.
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Common and differential factors associated with abstinence and poly drug use among Australian adolescentsThe aim of this study was to identify factors associated with compliance with recommendation for zero use of tobacco, alcohol and cannabis, and their use.
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CDKL5 variants: Improving our understanding of a rare neurologic disorderProviding new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.
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Incidence of and risk factors for hospitalisations due to vascular complications: A population-based type 1 diabetes cohort (n=1316) followed into early adulthoodDetermining the incidence of hospitalisations and risk factors for vascular complications experienced during early adulthood in patients with childhood T1D
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Physician training programs significantly improve diagnosis in cases coded as anaphylaxis over time: A major factor compounding time-trend data?We conducted an investigation of all cases coded as anaphylaxis presenting to the main tertiary PED in Perth, Australia, where all coding is performed by staff.
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Production of IgG antibodies to pneumococcal polysaccharides is associated with expansion of ICOS+ circulating memory T follicular-helper cells which is impaired by HIV infectionDysfunction of T follicular-helper cells is a possible cause of impaired germinal centre and IgG antibody responses in individuals with HIV
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ERS technical standard on bronchial challenge testing: General considerations and performance of methacholine challenge testsThis international task force report updates general considerations for bronchial challenge testing and the performance of the methacholine challenge test.
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Evolving Identification of Blood Cells Associated with Clinically Isolated Syndrome: Importance of Time since Clinical Presentation and Diagnostic MRIThis study aimed to identify a CIS peripheral blood signature that may provide clues for potential immunomodulatory approaches early in disease
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Prevalence and profile of Neurodevelopment and Fetal Alcohol Spectrum Disorder (FASD) amongst Australian Aboriginal children living in remote communitiesEarly intervention services are needed to support developmentally vulnerable children in remote communities.
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Early childhood development of boys with genital anomaliesWe found no increased risk of poor development among boys with hypospadias or undescended testis