A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

OBJECTIVE: Conventional genetic tests (quantitative fluorescent‐PCR [QF‐PCR] and single nucleotide polymorphism‐array) only diagnose ~40% of fetuses showing ultrasound abnormalities. Rapid exome sequencing (rES) may improve this diagnostic yield, but includes challenges such as uncertainties in feta...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Prenat Diagn
मुख्य लेखकों: Corsten‐Janssen, Nicole, Bouman, Katelijne, Diphoorn, Janouk C. D., Scheper, Arjen J., Kinds, Rianne, el Mecky, Julia, Breet, Hanna, Verheij, Joke B. G. M., Suijkerbuijk, Ron, Duin, Leonie K., Manten, Gwendolyn T. R., van Langen, Irene M., Sijmons, Rolf H., Sikkema‐Raddatz, Birgit, Westers, Helga, van Diemen, Cleo C.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: John Wiley & Sons, Ltd. 2020
विषय:
Original Articles
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC7540374/
https://ncbi.nlm.nih.gov/pubmed/32627857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pd.5781
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