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Welcome to the team Leah!Meet Leah – the latest addition to the CliniKids team. We asked Leah, our new Operations Manager, a couple of questions to get to know her.
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In this The Kids Research Institute Australia subsite, our Rett syndrome research team manages a national and international database of Rett syndrome.
We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.
We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.
Novel findings in relation to genotype
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.