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

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

McNeill, Alisdair - Personal Name;

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.

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Series Title: -
Call Number: 616 DIA
Publisher: Basel : MDPI - Multidisciplinary Digital Publishing Institute., 2019
Collation: -
Language: English
ISBN/ISSN: 978-3-03921-611-6
Classification: 616
Content Type: text
Media Type: computer
Carrier Type: online resource
Edition: -
Subject(s): Neurology
Specific Detail Info: -
Statement of Responsibility: Penyunting, Alisdair McNeill

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Cataloger: maya
Source: -
Validator: maya

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https://www.mdpi.com/books/pdfview/book/1735

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