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The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability
Genetic or genomic mutation is a major cause of intellectual disability (ID). However, despite the generally anticipated strong genotype/phenotype correlation for ID, there are huge obstacles to gene identification, except perhaps where very distinct syndromic features are observed, because of the h...
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| Publicado no: | Cold Spring Harb Perspect Med |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5334248/ https://ncbi.nlm.nih.gov/pubmed/28250017 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a026864 |
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