Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA

In recent years, molecular genetics has been playing an increasing role in the diagnostic process of monogenic epilepsies. Knowing the genetic basis of one patient's epilepsy provides accurate genetic counseling and may guide therapeutic options. Genetic diagnosis of epilepsy syndromes has long...

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Udgivet i:Appl Transl Genom
Main Authors: Dimassi, Sarra, Simonet, Thomas, Labalme, Audrey, Boutry-Kryza, Nadia, Campan-Fournier, Amandine, Lamy, Raphaelle, Bardel, Claire, Elsensohn, Mad-Hélénie, Roucher-Boulez, Florence, Chatron, Nicolas, Putoux, Audrey, de Bellescize, Julitta, Ville, Dorothée, Schaeffer, Laurent, Roy, Pascal, Mougou-Zerelli, Soumaya, Saad, Ali, Calender, Alain, Sanlaville, Damien, Lesca, Gaetan
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4803767/
https://ncbi.nlm.nih.gov/pubmed/27054081
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.atg.2015.10.001
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