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Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders
Background: The aim of this study was to describe the application of whole exome sequencing (WES) in the accurate genetic diagnosis and personalized treatment of extremely rare neurogenetic disorders. Methods: From 2017 to 2019, children with neurodevelopmental symptoms were evaluated using WES in t...
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| Publicado no: | J Clin Med |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7699758/ https://ncbi.nlm.nih.gov/pubmed/33233562 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm9113724 |
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