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Erger, Florian 
ORCID: 0000-0002-2768-1702, Burau, Karin, Elsaesser, Michael, Zimmermann, Katharina, Moog, Ute and Netzer, Christian
(2018).
Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses.
Eur. J. Hum. Genet., 26 (9).
S. 1392 - 1396.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438