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Research
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical ReviewClinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience
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Selection of appropriate spirometry reference values in Aboriginal AustraliansThe Global Lung Function ‘Caucasian’ and ‘Other’ spirometry equations do not match healthy Aboriginal FEV1 and FVC data
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Could home-based FeNO measurements breathe new life into asthma management?Developing a FeNO test that is affordable enough to allow daily measurements, patients will be able to access quantifiable data to assist them to monitor their asthma
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Vitamin D metabolites are lower with active Crohn’s disease and spontaneously recover with development of remissionWe aimed to characterise vitamin D metabolism in a cohort of patients with active and inactive Crohn’s disease
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Role of HLA-DQ typing and anti-tissue transglutaminase antibody titers in diagnosing celiac disease without duodenal biopsy in type 1 diabetesHLA-DQ typing is not cost effective as a first-line screening test for CD in T1D patients because of over-representation of CD permissive HLA alleles in this group
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Exposure to bile leads to the emergence of adaptive signaling variants in the opportunistic pathogen pseudomonas aeruginosaAdaptive variants of P. aeruginosa that arise following long term bile exposure enables the emergence of ecologically competitive sub-populations
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Transcriptional blood signatures for active and amphotericin B treated visceral leishmaniasis in IndiaAmphotericin B provides improved therapy for visceral leishmaniasis (VL) caused by Leishmania donovani
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Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based StudyThe present estimates of relative recurrence risks for autism spectrum disorder and childhood autism will assist clinicians and families in understanding autism risk
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Parental experiences using the Therapy Outcomes by You (TOBY) application to deliver early intervention to their child with autismParental experience of TOBY was positive when use of the application aligned with parental proficiency, opportunities for use, and importantly, the needs of the child
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The Australian and New Zealand Children's Haematology/Oncology Group Biobanking NetworkThe ANZCHOG-BN was developed to improve and streamline access to high quality pediatric and adolescent/young adult cancer biospecimens for cancer research