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Research

Candidate gene testing in clinical cohort studies with multiplexed genotyping and mass spectrometry

We describe a cost-effective tag single nucleotide polymorphism approach using a multiplexed genotyping assay with mass spectrometry

Research

Appendicular fracture epidemiology of children and adolescents: a 10-year case review in Western Australia (2005 to 2015)

Increased fracture incidence in Western Australia between 2005 and 2015 identifies a concerning trend for bone health in children and adolescents

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Symptom severity in autism spectrum disorder is related to the frequency and severity of nausea and vomiting during pregnancy: a retrospective case-control study

Investigating whether the presence and severity of nausea and vomiting may be related to symptom severity in offspring with autism spectrum disorder

Research

Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure

Initial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability

Research

Scabies and impetigo in Timor-Leste: A school screening study in two districts

Scabies and impetigo are common in Timor-Leste, with very high prevalence of scabies in the rural district of Ermera

Research

Rheumatic heart disease in Timor-Leste school students: an echocardiography-based prevalence study

The rates of RHD in Timor-Leste are among the highest in the world, and prevalence is higher among girls than boys. Community engagement is essential for ensuring follow-up and the effective delivery of secondary prophylaxis.

Research

Unusual paediatric spinal myxopapillary ependymomas: Unique molecular entities or pathological variations on a theme?

We describe two unusual cases of MPE and use DNA methylation analyses to compare their signatures to try and distinguish if these represent a unique subset.

Research

A prospective study of fetal head growth, autistic traits and autism spectrum disorder

This large population-based study identified no consistent association across two cohorts between prenatal head growth and postnatal autistic traits

Research

Mucormycosis in Children: Review and Recommendations for Management

we summarize the literature on the epidemiology and diagnosis of this invasive fungal infection and provide suggestions on the management of mucormycosis in children

Research

Histone modifications and their role in epigenetics of atopy and allergic diseases

This review covers basic aspects of histone modification and the role of posttranslational histone modifications in the development of allergic diseases