학술논문
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
Document Type
Article
Author
Brugger, M.; Kopajtich, R.; Prokisch, H.; Winkelmann, J.; Wagner, M.; Lauri, A.; Fasano, G.; Radio, F.C.; Mancini, C.; Pizzi, S.; Paradisi, G.; Tartaglia, M.; Zhen, Y.; Sørensen, V.; Stenmark, H.; Gramegna, L.L.; Tonon, C.; Lodi, R.; La Morgia, C.; Caporali, L.; Carelli, V.; Zott, B.; Finck, T.; Sekulić, N.; Cordeddu, V.; Zanni, G.; Vasco, G.; Carrozzo, R.; Palombo, F.; Fiorini, C.; Arelin, M.; Blechschmidt, C.; Kreiser, K.; Strobl-Wildemann, G.; Daum, H.; Michaelson-Cohen, R.; Ziccardi, L.; Zampino, G.; Abou Jamra, R.; Arzberger, T.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 7 March 2024, 111(3):594-613)
Subject
Language
English
ISSN
15376605
00029297
00029297