Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Autor: Gubbels, Cynthia S., VanNoy, Grace E., Madden, Jill A., Copenheaver, Deborah, Yang, Sandra, Wojcik, Monica H., Gold, Nina B., Genetti, Casie A., Stoler, Joan, Parad, Richard B., Roumiantsev, Sergei, Bodamer, Olaf, Beggs, Alan H., Juusola, Jane, Agrawal, Pankaj B., Yu, Timothy W.
Zdroj: In Genetics in Medicine April 2020 22(4):736-744
Databáze: ScienceDirect
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