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1 Ergebnisse
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De novo variants in RNF213 are associated with a clinical s..:
Brunet, Theresa
;
Zott, Benedikt
;
Lieftüchter, Victoria
...
Genetics in Medicine. 26 (2024) 2 - p. 101013 , 2024
Link:
https://doi.org/10.1016/j.gim.2023.101013
RT Journal T1
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2023.101013&Exemplar=1&LAN=DE A1 Brunet, Theresa A1 Zott, Benedikt A1 Lieftüchter, Victoria A1 Lenz, Dominic A1 Schmidt, Axel A1 Peters, Philipp A1 Kopajtich, Robert A1 Zaddach, Malin A1 Zimmermann, Hanna A1 Hüning, Irina A1 Ballhausen, Diana A1 Staufner, Christian A1 Bianzano, Alyssa A1 Hughes, Joanne A1 Taylor, Robert W. A1 McFarland, Robert A1 Devlin, Anita A1 Mihaljević, Mihaela A1 Barišić, Nina A1 Rohlfs, Meino A1 Wilfling, Sibylle A1 Sondheimer, Neal A1 Hewson, Stacy A1 Marinakis, Nikolaos M. A1 Kosma, Konstantina A1 Traeger-Synodinos, Joanne A1 Elbracht, Miriam A1 Begemann, Matthias A1 Trepels-Kottek, Sonja A1 Hasan, Dimah PB Elsevier BV YR 2024 SN 1098-3600 JF Genetics in Medicine VO 26 IS 2 SP 101013 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2023.101013 DO https://doi.org/10.1016/j.gim.2023.101013 SF ELIB - SuUB Bremen
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