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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 2
Zeitschriftenartikel
Stehr, Antonia M.; Fischer, Jan; Mirza-Schreiber, Nazanin; Bernardi, Katerina; Porrmann, Joseph; Harrer, Philip; Kaiser, Frank; Jamra, Rami Abou; Winkelmann, Juliane 
ORCID: https://orcid.org/0000-0002-3074-599X; Jech, Robert; Koy, Anne; Oexle, Konrad und Zech, Michael
(2025):
Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders.
In: Parkinsonism & Related Disorders, Bd. 133, 107319
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-3074-599X; Jech, Robert; Koy, Anne; Oexle, Konrad und Zech, Michael
(2025):
Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders.
In: Parkinsonism & Related Disorders, Bd. 133, 107319
[PDF, 1MB]
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]