Author/Editor     Kremer, Laura S.; Bader, Daniel M.; Mertes, Christian; Kopajtich, Robert; Pichler, Garwin; Iuso, Arcangela; Haack, Tobias B.; Graf, Elisabeth; Schwarzmayr, Thomas; Adamski, Jerzy
Title     Genetic diagnosis of Mendelian disorders via RNA sequencing
Type     članek
Vol. and No.     , št. Vol. 8
Publication year     2017
Volume     str. 1-11
ISSN     2041-1723 - Nature communications
Language     eng
Keywords     Mendelian disorders
RNA sequencing
genetic diagnosis
Mendelovske motnje
sekvenciranjem RNA
genetska diagnoza