Search
Research
Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoeaWe report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L
Research
Evening and night work schedules and children's social and emotional well-beingThe findings show that both mothers’ and fathers’ evening and night work schedules are linked to an increase in children's externalizing and internalizing behavior
Research
Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett SyndromeGastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear
Research
Time to tackle rheumatic heart disease: Data needed to drive global policy dialoguesThis report provides an update on the contemporary global and regional policy landscapes relevant to rheumatic heart disease
Research
Epidemiology and risk factors for recurrent severe lower limb cellulitis: a longitudinal cohort studySevere lower leg cellulitis recurrences are frequent, and each episode increases the likelihood of subsequent recurrence and length of hospitalization
Research
Transplacental immune modulation with a bacterial-derived agent protects against allergic airway inflammationThese data provide proof of concept supporting the rationale for developing transplacental immune reprogramming approaches for primary disease prevention
Research
Oral health experiences of individuals with Rett syndrome: A retrospective studySocial advantage may provide some protection for dental health in individuals with Rett syndrome
Research
Study protocol for the Australian autism biobank: an international resource to advance autism discovery researchThe Australian Autism Biobank was initiated to establish a large-scale repository of biological samples and detailed clinical information about children diagnosed with ASD
Research
Can polymorphisms in the fatty acid desaturase (FADS) gene cluster alter the effects of fish oil supplementation on plasma and erythrocyte fatty acid profiles?Supplementation with fish oil may only significantly increase DHA in minor allele carriers of FADS1 SNPs
Research
How body composition influences hearing status by mid-childhood and mid-life: The Longitudinal Study of Australian ChildrenConcurrent adiposity and decade-long BMI trajectories showed small, but clear, associations with poor hearing in mid-life women