Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders

This single-center study aims to determine the time, diagnostic procedure, and cost saving potential of early exome sequencing in a cohort of 111 individuals with genetically confirmed neurodevelopmental disorders. We retrospectively collected data regarding diagnostic time points and procedures fro...

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Detalles Bibliográficos
Autores principales: Klau, Julia, Abou Jamra, Rami, Radtke, Maximilian, Oppermann, Henry, Lemke, Johannes R., Beblo, Skadi, Popp, Bernt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8738730/
https://www.ncbi.nlm.nih.gov/pubmed/34690354
http://dx.doi.org/10.1038/s41431-021-00981-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8738730/
https://www.ncbi.nlm.nih.gov/pubmed/34690354
http://dx.doi.org/10.1038/s41431-021-00981-z

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