Please use this identifier to cite or link to this item:
https://ahro.austin.org.au/austinjspui/handle/1/34232
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Ye, Zimeng | - |
dc.contributor.author | Lin, Sufang | - |
dc.contributor.author | Zhao, Xia | - |
dc.contributor.author | Wallis, Mathew J | - |
dc.contributor.author | Gao, Xinyi | - |
dc.contributor.author | Sun, Li | - |
dc.contributor.author | Wu, Jiarui | - |
dc.contributor.author | Duan, Jing | - |
dc.contributor.author | Yao, Yi | - |
dc.contributor.author | Li, Lin | - |
dc.contributor.author | Chen, Li | - |
dc.contributor.author | Cao, Dezhi | - |
dc.contributor.author | Hu, Zhanqi | - |
dc.contributor.author | Zhang, Victor W | - |
dc.contributor.author | Berkovic, Samuel F | - |
dc.contributor.author | Scheffer, Ingrid E | - |
dc.contributor.author | Liao, Jianxiang | - |
dc.contributor.author | Hildebrand, Michael S | - |
dc.date | 2023 | - |
dc.date.accessioned | 2023-11-15T05:28:09Z | - |
dc.date.available | 2023-11-15T05:28:09Z | - |
dc.date.issued | 2023-10-22 | - |
dc.identifier.citation | Pediatric Neurology 2023-10-22; 150 | en_US |
dc.identifier.issn | 1873-5150 | - |
dc.identifier.uri | https://ahro.austin.org.au/austinjspui/handle/1/34232 | - |
dc.language.iso | eng | - |
dc.subject | Exome sequencing | en_US |
dc.subject | Mosaicism | en_US |
dc.subject | Recurrence risk | en_US |
dc.subject | Tuberous sclerosis complex | en_US |
dc.subject | Variant interpretation | en_US |
dc.title | Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis. | en_US |
dc.type | Journal Article | en_US |
dc.identifier.journaltitle | Pediatric Neurology | en_US |
dc.identifier.affiliation | Epilepsy Research Centre | en_US |
dc.identifier.affiliation | Department of Neurology, Epilepsy Centre, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China. | en_US |
dc.identifier.affiliation | Department of Neurology, Epilepsy Centre, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China. | en_US |
dc.identifier.affiliation | Tasmania Clinical Genetics Service, Royal Hobart Hospital, Hobart, Tasmania, Australia; School of Medicine, University of Tasmania, Hobart, Tasmania, Australia; Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia; Austin Health, Heidelberg, Victoria, Australia. | en_US |
dc.identifier.affiliation | AmCare Genomics Laboratory, Guangzhou, Guangdong Province, China. | en_US |
dc.identifier.affiliation | AmCare Genomics Laboratory, Guangzhou, Guangdong Province, China. | en_US |
dc.identifier.doi | 10.1016/j.pediatrneurol.2023.10.008 | en_US |
dc.type.content | Text | en_US |
dc.identifier.pubmedid | 37951160 | - |
dc.description.volume | 150 | - |
dc.description.startpage | 37 | - |
dc.description.endpage | 39 | - |
item.openairetype | Journal Article | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | none | - |
item.fulltext | No Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.languageiso639-1 | en | - |
crisitem.author.dept | Clinical Genetics | - |
crisitem.author.dept | Epilepsy Research Centre | - |
crisitem.author.dept | Neurology | - |
crisitem.author.dept | Epilepsy Research Centre | - |
crisitem.author.dept | Epilepsy Research Centre | - |
crisitem.author.dept | Medicine (University of Melbourne) | - |
Appears in Collections: | Journal articles |
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