Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study

BACKGROUND AND OBJECTIVES: Malformations of cortical development (MCD), though individually rare, constitute a significant burden of disease. The diagnostic yield of next-generation sequencing (NGS) in these patients varies across studies and methods, and novel genes and variants continue to emerge....

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Detalles Bibliográficos
Autores principales: Straka, Barbora, Hermanovska, Barbora, Krskova, Lenka, Zamecnik, Josef, Vlckova, Marketa, Balascakova, Miroslava, Tesner, Pavel, Jezdik, Petr, Tichy, Michal, Kyncl, Martin, Musilova, Alena, Lassuthova, Petra, Marusic, Petr, Krsek, Pavel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9621608/
https://www.ncbi.nlm.nih.gov/pubmed/36324633
http://dx.doi.org/10.1212/NXG.0000000000200032

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9621608/
https://www.ncbi.nlm.nih.gov/pubmed/36324633
http://dx.doi.org/10.1212/NXG.0000000000200032

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