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Using information from the Australian Rett Syndrome study, we examined the frequency of a range of sleep issues and variation by agegroup or gene abnormalities.

We wanted to assess bone mineral content and bone mass density in girls and women in our Australian study, and whether specific factors had any influence.

Using information provided by the Rett study, we looked at relationships of early development, genetic characteristics and the development of scoliosis.

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The present study aimed to compare cardiorespiratory fitness levels in children with and without Type 1 diabetes.

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CMT4D disease is a severe autosomal recessive demyelinating neuropathy with extensive axonal loss leading to early disability

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The concept of risk is especially salient to obstetric care. Unknown factors can still be responsible for peri-natal morbidity

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Long-term survival after lung transplantation is hindered by the development of bronchiolitis obliterans syndrome (BOS).

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We hypothesized that the inflammatory response in the lungs of children with cystic fibrosis (CF) would vary with the type of infecting organism, being...

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This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors

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Early detection of the cyanobacterium Pseudomonas aeruginosa in the lungs of young children with cystic fibrosis (CF) is considered the key to delaying...