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Whole-Exome Sequencing as a diagnostic tool in a child with Atypical Episodic Muscle Weakness
The advent of whole-exome next-generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical application of WES has remained relatively unexplored. We describe our experience with WES as a diagnostic tool in a three-year old female patien...
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| Autors principals: | , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2012
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3926310/ https://ncbi.nlm.nih.gov/pubmed/22901280 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2012.01951.x |
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