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Showing results for "Neuromuscular disorders "

Representativeness of child controls recruited by random digit dialling

Recruiting control subjects who are representative of the population from which the cases are drawn is a challenge in case-control studies

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...

Feeding experiences and growth status in a Rett syndrome population

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...

Perinatal risk factors for childhood Type 1 diabetes in Western Australia - a population-based study (1980-2002)

To investigate perinatal risk factors for childhood Type 1 diabetes in Western Australia, using a complete population-based cohort.

Correlation between clinical severity in patients with Rett syndrome

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

Development of a scale to evaluate midwives' beliefs about assessing alcohol use during pregnancy

Prenatal alcohol exposure is an important modifiable cause of adverse fetal outcomes during and following pregnancy.

Impact of prenatal screening and diagnostic testing on trends in Down syndrome births and terminations in Western Australia 1980 to 2013

To assess how prenatal screening and diagnostic testing have impacted the diagnosis, termination and birth prevalence of Down syndrome in Western Australia...

Prevalence, repairs and complications of hypospadias: An Australian population-based study

To investigate hypospadias' prevalence and trends, rate of surgical repairs and post-repair complications in an Australian population.