المؤلفون: Se Song Jang, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Jong-Il Kim, Byung Chan Lim

المصدر: Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: epilepsy, seizure, genetic test, diagnostic yield, target panel sequencing, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2019.00988/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/402deea7d9e8441287954bd3608639a1

المؤلفون: N.Yu. Abramycheva, E.Yu. Fedotova, S.A. Klyushnikov, V.V. Ustinova, V.E. Kunetsky, M.S. Stepanova, S.L. Timerbaeva, Ya.I. Alekseev, S.N. Illarioshkin

مصطلحات موضوعية: next generation sequencing, target panel sequencing, neurodegenerative diseases, DNA diagnostics, gene mutation

وصف الملف: text/html

الاتاحة: http://cyberleninka.ru/article/n/an-original-target-genetic-panel-to-diagnose-neurodegenerative-diseases-on-the-basis-of-next-generation-sequencing-first-experience
http://cyberleninka.ru/article_covers/16942210.png

المؤلفون: Se Song Jang, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Jong-Il Kim, Byung Chan Lim

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, epilepsy, seizure, genetic test, diagnostic yield, target panel sequencing

Relation: https://figshare.com/articles/dataset/Table_2_Diagnostic_Yield_of_Epilepsy_Panel_Testing_in_Patients_With_Seizure_Onset_Within_the_First_Year_of_Life_XLSX/9821039

الاتاحة: https://doi.org/10.3389/fneur.2019.00988.s003
https://figshare.com/articles/dataset/Table_2_Diagnostic_Yield_of_Epilepsy_Panel_Testing_in_Patients_With_Seizure_Onset_Within_the_First_Year_of_Life_XLSX/9821039

المؤلفون: Se Song Jang, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Jong-Il Kim, Byung Chan Lim

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, epilepsy, seizure, genetic test, diagnostic yield, target panel sequencing

Relation: https://figshare.com/articles/figure/Image_1_Diagnostic_Yield_of_Epilepsy_Panel_Testing_in_Patients_With_Seizure_Onset_Within_the_First_Year_of_Life_TIF/9821033

الاتاحة: https://doi.org/10.3389/fneur.2019.00988.s001
https://figshare.com/articles/figure/Image_1_Diagnostic_Yield_of_Epilepsy_Panel_Testing_in_Patients_With_Seizure_Onset_Within_the_First_Year_of_Life_TIF/9821033

المؤلفون: V. V. Ustinova, S. L. Timerbaeva, V.E. Kunetsky, Sergey N. Illarioshkin, M. S. Stepanova, N. Yu. Abramycheva, Ya.I. Alekseev, E. Yu. Fedotova, S. A. Klyushnikov

المصدر: Современные технологии в медицине.

مصطلحات موضوعية: Genetics, СЕКВЕНИРОВАНИЕ СЛЕДУЮЩЕГО ПОКОЛЕНИЯ,ТАРГЕТНОЕ ПАНЕЛЬНОЕ СЕКВЕНИРОВАНИЕ,НЕЙРОДЕГЕНЕРАТИВНЫЕ ЗАБОЛЕВАНИЯ,ДНК-ДИАГНОСТИКА,МУТАЦИИ ГЕНОВ, next generation sequencing, target panel sequencing, neurodegenerative diseases, DNA diagnostics, gene mutation, General Medicine, Gene mutation, Biology, General Biochemistry, Genetics and Molecular Biology, Exome sequencing, DNA sequencing

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b88839e8e0f50f0cb03d992b00f9c2c2
http://cyberleninka.ru/article/n/an-original-target-genetic-panel-to-diagnose-neurodegenerative-diseases-on-the-basis-of-next-generation-sequencing-first-experience