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Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy

Background: The advent of next-generation sequencing (NGS) techniques in clinical practice led to a significant advance in gene discovery. We aimed to describe diagnostic yields of a “dynamic” exome-based approach in a cohort of patients with epilepsy associated with neurodevelopmental disorders. Me...

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Detalles Bibliográficos
Autores principales: Varesio, Costanza, Gana, Simone, Asaro, Alessia, Ballante, Elena, Cabini, Raffaella Fiamma, Tartara, Elena, Bagnaschi, Michela, Pasca, Ludovica, Valente, Marialuisa, Orcesi, Simona, Cereda, Cristina, Veggiotti, Pierangelo, Borgatti, Renato, Valente, Enza Maria, De Giorgis, Valentina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8228291/
https://www.ncbi.nlm.nih.gov/pubmed/34070668
http://dx.doi.org/10.3390/diagnostics11060948