Diagnosis of neurogenetic disorders contribution of next generation sequencing and deep phenotyping
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...
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Format: | eBook |
Language: | Inglés |
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MDPI - Multidisciplinary Digital Publishing Institute
2019
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See on Biblioteca Universitat Ramon Llull: | https://discovery.url.edu/permalink/34CSUC_URL/1im36ta/alma991009433794506719 |