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Research

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience

Research

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 remission

We 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 diabetes

HLA-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 aeruginosa

Adaptive variants of P. aeruginosa that arise following long term bile exposure enables the emergence of ecologically competitive sub-populations

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Potential use of Western Australia’s mandatory Midwives Notification System for routinely monitoring antenatal vaccine coverage

We observed low sensitivity and specificity of antenatal vaccination data in the Midwives Notification System

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The contributions of fetal growth restriction and gestational age to developmental outcomes at 12 months of age: A cohort study

Developmental assessment of infants with fetal growth restriction was mostly comparable to those born without fetal growth restriction at 12 months

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Immunoinflammatory responses to febrile lower respiratory infections in infants display uniquely complex/intense transcriptomic profiles

the association between infant LRTI and risk for persistent wheeze/asthma in this cohort is generally stronger for fLRTIs than for other infection categories

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Nature play and fundamental movement skills training programs improve childcare educator supportive physical activity behavior

Both the Nature play and fundamental movement skills professional development programs were effective in improving educators’ self-efficacy to engage children

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The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk