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We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.
We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.
In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.
Research
Wound healing genes and susceptibility to cutaneous leishmaniasis in BrazilLeishmania braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. In the mouse, Fli1 was identified as a gene influencing enhanced wound healing...
Research
Early mental health morbidity and later smoking at age 17 yearsWe examined the relationship between the onset and pattern of childhood mental health disorders and subsequent current smoking status at age 17 years.
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Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome familiesFourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.
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The diagnostic odyssey to Rett syndrome: The experience of an Australian familyThe diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.
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Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's diseaseGenome-wide association studies (GWASs) have been successful at identifying single-nucleotide polymorphisms (SNPs) highly associated with common traits...
Research
Clinical investigation of respiratory system admittance in preschool childrenWe compared the ability of Ars, to standard oscillatory outcomes, to determine respiratory disease and differentiate responses to inhaled bronchial challenges.
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Seasonal variation in fetal growth: Accounting for sociodemographic, biological, and environmental exposuresWe sought to investigate seasonal variation in fetal growth, accounting for important sociodemographic, biological, and environmental exposures.