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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: Carmichael, Heather, Shen, Yiping, T, Thutrang, Hirschhorn, Joel N, Dauber, Andrew
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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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