Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders

BACKGROUND AND OBJECTIVES: Owing to their extensive clinical and molecular heterogeneity, hereditary neurologic diseases in adults are difficult to diagnose. The current knowledge about the diagnostic yield and clinical utility of exome sequencing (ES) for neurologic diseases in adults is limited. T...

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Detalles Bibliográficos
Autores principales: Schuermans, Nika, Verdin, Hannah, Ghijsels, Jody, Hellemans, Madeleine, Debackere, Elke, Bogaert, Elke, Symoens, Sofie, Naesens, Leslie, Lecomte, Elien, Crosiers, David, Bergmans, Bruno, Verhoeven, Kristof, Poppe, Bruce, Laureys, Guy, Herdewyn, Sarah, Van Langenhove, Tim, Santens, Patrick, De Bleecker, Jan L., Hemelsoet, Dimitri, Dermaut, Bart
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160959/
https://www.ncbi.nlm.nih.gov/pubmed/37152446
http://dx.doi.org/10.1212/NXG.0000000000200071

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