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Genetic Testing
Manage episode 312495037 series 3236617
David Cunnington and SCN2A Australia에서 제공하는 콘텐츠입니다. 에피소드, 그래픽, 팟캐스트 설명을 포함한 모든 팟캐스트 콘텐츠는 David Cunnington and SCN2A Australia 또는 해당 팟캐스트 플랫폼 파트너가 직접 업로드하고 제공합니다. 누군가가 귀하의 허락 없이 귀하의 저작물을 사용하고 있다고 생각되는 경우 여기에 설명된 절차를 따르실 수 있습니다 https://ko.player.fm/legal.
Genetic testing is complex with many different types of tests, and a range of terms used to describe the results of test, particularly in areas such as genetic epilepsy where research is moving so quickly. To help gain a better understanding of genetic testing and the results we talk to Dr Emma Palmer.
Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A.
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Links:
- Australian Genomics Health Alliance - genomics info
- Human Disease Genes - website series
- Rare chromosomes and gene disorders (Unique)
- Paediatric Epilepsy Network NSW (PENNSW) - epilepsy information for families and clinicians
- Talk at Genetic Epilepsy conference (GETA 2019) - video
- Parental mosaicism in 'de novo' epileptic encephalopathies - journal article
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