A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

Next generation sequencing provides an important opportunity for improved diagnosis in epilepsy. To date, the majority of diagnostic genetic testing is conducted in the paediatric arena, while the utility of such testing is less well understood in adults with epilepsy. We conducted whole exome seque...

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Опубликовано в: :Eur J Hum Genet
Главные авторы: Benson, Katherine A., White, Maire, Allen, Nicholas M., Byrne, Susan, Carton, Robert, Comerford, Elizabeth, Costello, Daniel, Doherty, Colin, Dunleavey, Brendan, El-Naggar, Hany, Gangadharan, Nisha, Heavin, Sinéad, Kearney, Hugh, Lench, Nicholas J., Lynch, John, McCormack, Mark, Regan, Mary O’, Podesta, Karl, Power, Kevin, Rogers, Anthony S., Steward, Charles A., Sweeney, Brian, Webb, David, Fitzsimons, Mary, Greally, Marie, Delanty, Norman, Cavalleri, Gianpiero L.
Формат: Artigo
Язык:Inglês
Опубликовано: Springer International Publishing 2020
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7381648/
https://ncbi.nlm.nih.gov/pubmed/32238909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0610-3
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