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Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype
Whole exome sequencing and chromosomal microarrays are two powerful technologies that have transformed the ability of researchers to search for potentially causal variants in human disease. This study combines these tools to search for causal variants in a patient found to have maternal uniparental...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2012
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3996682/ https://ncbi.nlm.nih.gov/pubmed/23167750 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12064 |
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