Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping
Dublin Core
Title
Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping
Subject
Neurology
Description
The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain.
Creator
McNeill, Alisdair
Source
https://www.mdpi.com/books/pdfview/book/1735
Publisher
MDPI - Multidisciplinary Digital Publishing Institute
Date
2019
Contributor
-
Rights
Creative Commons
Format
PDF
Language
English
Type
Textbooks
Files
Collection
Citation
McNeill, Alisdair, “Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping,” Open Educational Resource (OER) - USK Library, accessed September 12, 2024, http://uilis.usk.ac.id/oer/items/show/4349.