학술논문
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Document Type
Article
Author
Brunet, T.; Kopajtich, R.; Prokisch, H.; Meitinger, T.; Wagner, M.; Zott, B.; Lieftüchter, V.; Peters, P.; Zaddach, M.; Rohlfs, M.; Lenz, D.; Staufner, C.; Bianzano, A.; Schmidt, A.; Zimmermann, H.; Hüning, I.; Ballhausen, D.; Hughes, J.; Taylor, R.W.; McFarland, R.; Devlin, A.; Mihaljević, M.; Barišić, N.; Wilfling, S.; Sondheimer, N.; Hewson, S.; Marinakis, N.M.; Kosma, K.; Traeger-Synodinos, J.; Elbracht, M.; Begemann, M.; Trepels-Kottek, S.; Hasan, D.; Scala, M.; Zara, F.; Capra, V.; van der Ven, A.T.; Driemeyer, J.; Apitz, C.; Krämer, J.; Strong, A.; Hakonarson, H.; Watson, D.; Mayr, J.A.; Borggraefe, I.; Gerstl, L.; Spiegler, J.; Baric, I.; Paolini, M.
Source
In: Genetics in Medicine . (Genetics in Medicine, February 2024, 26(2))
Subject
Language
English
ISSN
15300366
10983600
10983600