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Prenatal Exome Sequencing in Anomalous Fetuses: New Opportunities and Challenges
PURPOSE: We investigated the diagnostic and clinical performance of exome sequencing (ES) in fetuses with sonographic abnormalities with normal karyotype, microarray and, in some cases, normal gene specific sequencing. METHODS: ES was performed from DNA of 15 anomalous fetuses and from peripheral bl...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Genet Med |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5675748/ https://ncbi.nlm.nih.gov/pubmed/28518170 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.33 |
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