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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 2
Zeitschriftenartikel
Brugger, Melanie; Lauri, Antonella; Zhen, Yan; Gramegna, Laura L.; Zott, Benedikt; Sekulic, Nikolina; Fasano, Giulia; Kopajtich, Robert; Cordeddu, Viviana; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Paradisi, Graziamaria; Zanni, Ginevra; Vasco, Gessica; Carrozzo, Rosalba; Palombo, Flavia; Tonon, Caterina; Lodi, Raffaele; Morgia, Chiara La; Arelin, Maria; Blechschmidt, Cristiane; Finck, Tom; Sorensen, Vigdis; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Daum, Hagit; Michaelson-Cohen, Rachel; Ziccardi, Lucia; Zampino, Giuseppe; Prokisch, Holger; Jamra, Rami Abou; Fiorini, Claudio; Arzberger, Thomas; Winkelmann, Juliane; Caporali, Leonardo; Carelli, Valerio; Stenmark, Harald; Tartaglia, Marco und Wagner, Matias
(2024):
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
In: American Journal of Human Genetics, Bd. 111, Nr. 3
[PDF, 7MB]
Goodridge, Jodie P.; Jacobs, Benedikt; Saetersmoen, Michelle L.; Clement, Dennis; Hammer, Quirin; Clancy, Trevor; Skarpen, Ellen; Brech, Andreas; Landskron, Johannes; Grimm, Christian; Pfefferle, Aline; Meza-Zepeda, Leonardo; Lorenz, Susanne; Wiiger, Merete Thune; Louch, William E.; Ask, Eivind Heggernes; Liu, Lisa L.; Oei, Vincent Yi Sheng; Kjallquist, Una; Linnarsson, Sten; Patel, Sandip; Tasken, Kjetil; Stenmark, Harald und Malmberg, Karl-Johan
(2019):
Remodeling of secretory lysosomes during education tunes functional potential in NK cells.
In: Nature Communications, Bd. 10, 514
[PDF, 3MB]