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 May 28, 2024, http://uilis.usk.ac.id/oer/items/show/4349.

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