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Research

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.

Research

Measuring early childhood development with The Early Human Capability Index (eHCI): a reliability and validity study in China

With the importance of early childhood development more recognized by the international society, low-cost and cross-culturally comparable measures of early childhood development is in great demand, both in China and worldwide. In this study, we aim to test the psychometrics of the Chinese version of The Early Human Capability Index (eHCI), which is designed as a measurement for school readiness in large population.

Research

Changes in lung volume during spells in children with Tetralogy of Fallot under general anesthesia

To describe the changes in end-expiratory lung volume and ventilation inhomogeneities during spells in three children with Tetralogy of Fallot.

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Research

Calcium and Vitamin D for obesity: review of randomized controlled trials

Obesity often coexists with low calcium intake and vitamin D insufficiency.

Research

Priority-setting in youth with chronic conditions

Amy Keely Liz Leanne Bec Finlay-Jones Bebbington Davis Fried Sampson BPsych(Hons), MPsych(Clinical), MHealthEcon, PhD (Clin Psych) MClinPsych/PhD

Research

Mind The Distance

Yael Penelope Keely Bep Amy Helen Perry Strauss Bebbington Uink Finlay-Jones Milroy BPsych (Hons) MPsych (Clin) PhD BA, MPH, PhD MClinPsych/PhD

Research

Bacillus licheniformis in geogenic dust induces inflammation in respiratory epithelium

We have previously demonstrated that mice exposed to geogenic dust PM10 experienced an exacerbation of inflammatory responses to influenza A virus.