Senior Research Fellow ...

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Senior Analyst Programmer ...

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Senior Research Officer ...

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Honorary Research Associate ...

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Postdoctoral Research Fellow in Child Mental Health ...

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Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• October 2020

Our data set provides a useful reference point for genomic studies on Aboriginal Australians ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• April 2020

This data set provides a useful reference point for genomic studies on Aboriginal Australians ...

• Telethon Kids Institute
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• Reports and Findings
• 2016
• April 2016

Estimates of the prevalence of intellectual disability or autism spectrum disorder may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• May 2024

Joelie Mandzufas JM BCom BHSc GCHELT Project Coordinator Joelie.mandzufas@telethonkids.org.au PhD Student Joelie Mandzufas is a PhD student with the ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• October 2022