Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping

Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping

Show other versions (1)

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 diso...

Full description

Saved in:
Bibliographic Details
Main Author: McNeill, Alisdair (auth)
Format: Book Chapter
Published: MDPI - Multidisciplinary Digital Publishing Institute 2019
Subjects:
polymicrogyria
n/a
neurodegenerative disease
next generation sequencing (NGS)
inborn error of metabolism
genetic biomarker
deep learning
TUBA1A
Alzheimer's disease (AD)
ataxia
risk prediction
p.(Arg2His)
movement science
tubulin
R2H
diagnosis
machine learning
metal storage disorders
amyotrophic lateral sclerosis (ALS)
glucocerebrosidase
Parkinsonism
cerebellar hypoplasia
Gaucher disease
disease phenotyping
tubulinopathy
Parkinson's disease (PD)
dementia
Parkinson's disease
Online Access:Get Fullteks
DOAB: description of the publication
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

Get Fullteks
DOAB: description of the publication

3rd Floor Main Library

Holdings details from 3rd Floor Main Library
Call Number: A1234.567
Copy 1 Available

Similar Items