Incorporating epilepsy genetics into clinical practice: a 360°evaluation

We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and surveyed referring clinicians and families. We costed alternative investigational pathways for neonatal onset epilepsy. Patien...

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書誌詳細
出版年:NPJ Genom Med
主要な著者: Oates, Stephanie, Tang, Shan, Rosch, Richard, Lear, Rosalie, Hughes, Elaine F., Williams, Ruth E., Larsen, Line H. G., Hao, Qin, Dahl, Hans Atli, Møller, Rikke S., Pal, Deb K.
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2018
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5945675/
https://ncbi.nlm.nih.gov/pubmed/29760947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-018-0052-9
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