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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 2

Zeitschriftenartikel

Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico ORCID logoORCID: https://orcid.org/0000-0001-9276-4590; Carrozzo, Rosalba ORCID logoORCID: https://orcid.org/0000-0002-3327-4054; Diodato, Daria; Distelmaier, Felix ORCID logoORCID: https://orcid.org/0000-0001-8460-3738; Fang, Fang; Ghezzi, Daniele ORCID logoORCID: https://orcid.org/0000-0002-6564-3766; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas ORCID logoORCID: https://orcid.org/0000-0003-2805-4652; Stenton, Sarah L.; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rötig, Agnés ORCID logoORCID: https://orcid.org/0000-0003-0589-0703; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina G.; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei ORCID logoORCID: https://orcid.org/0000-0002-3923-8636 und Prokisch, Holger ORCID logoORCID: https://orcid.org/0000-0003-2379-6286 (2025): Pleiotropic effects of MORC2 derive from its epigenetic signature. In: Brain, awaf159 [Forthcoming]

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]

Diese Liste wurde am Sat Jun 14 22:10:34 2025 CEST erstellt.