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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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The epidemiological transition in Papua New Guinea: new evidence from verbal autopsy studiesOur results indicate immediate priorities for health service planning and for strengthening of vital registration systems
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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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Potential use of Western Australia’s mandatory Midwives Notification System for routinely monitoring antenatal vaccine coverageWe observed low sensitivity and specificity of antenatal vaccination data in the Midwives Notification System
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Feasibility of conducting an early pregnancy diet and lifestyle e-health intervention: The Pregnancy Lifestyle Activity Nutrition (PLAN) projectA lifestyle intervention starting in the first-trimester pregnancy utilising e-health mode of delivery is feasible
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The contributions of fetal growth restriction and gestational age to developmental outcomes at 12 months of age: A cohort studyDevelopmental assessment of infants with fetal growth restriction was mostly comparable to those born without fetal growth restriction at 12 months
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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