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Showing results for "Neuromuscular disorders "
Recruiting control subjects who are representative of the population from which the cases are drawn is a challenge in case-control studies
Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).
This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...
To investigate perinatal risk factors for childhood Type 1 diabetes in Western Australia, using a complete population-based cohort.
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.
Prenatal alcohol exposure is an important modifiable cause of adverse fetal outcomes during and following pregnancy.
To assess how prenatal screening and diagnostic testing have impacted the diagnosis, termination and birth prevalence of Down syndrome in Western Australia...
To investigate hypospadias' prevalence and trends, rate of surgical repairs and post-repair complications in an Australian population.
Behavioural differences in children with Autism Spectrum Disorder from simplex and multiplex families