Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
about
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.PaPI: pseudo amino acid composition to score human protein-coding variants.Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.A Data Fusion Approach to Enhance Association Study in Epilepsy.Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.The contribution of next generation sequencing to epilepsy genetics.Lessons learned from gene identification studies in Mendelian epilepsy disorders.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.Incorporating epilepsy genetics into clinical practice: a 360°evaluation.γ2 GABAR Trafficking and the Consequences of Human Genetic Variation
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P2860
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Improving molecular diagnosis ...... hroughput sequencing platform.
@ast
Improving molecular diagnosis ...... hroughput sequencing platform.
@en
type
label
Improving molecular diagnosis ...... hroughput sequencing platform.
@ast
Improving molecular diagnosis ...... hroughput sequencing platform.
@en
prefLabel
Improving molecular diagnosis ...... hroughput sequencing platform.
@ast
Improving molecular diagnosis ...... hroughput sequencing platform.
@en
P2093
P2860
P50
P356
P1476
Improving molecular diagnosis ...... hroughput sequencing platform.
@en
P2093
Baran Bayindir
Erika Della Mina
Francesca Brustia
Gianfranco Perotti
Laura Pezzoli
Maria Iascone
Pierangelo Veggiotti
Simona Lunghi
Valentina De Giorgis
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P2888
P304
P356
10.1038/EJHG.2014.92
P50
P577
2014-05-21T00:00:00Z
P6179
1007765353