Anzahl der Publikationen: 2
Zeitschriftenartikel
Harrer, Philip; Schalk, Audrey; Shimura, Masaru; Baer, Sarah; Calmels, Nadege; Spitz, Marie Aude; Warde, Marie-Therese Abi; Schaefer, Elise; Kittke, Volker M. Sc; Dincer, Yasemin; Wagner, Matias; Dzinovic, Ivana; Berutti, Riccardo; Sato, Tatsuharu; Shirakawa, Toshihiko; Okazaki, Yasushi; Murayama, Kei; Oexle, Konrad; Prokisch, Holger; Mall, Volker; Melcak, Ivo; Winkelmann, Juliane und Zech, Michael
(2023):
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
In: Annals of Neurology, Bd. 93, Nr. 2: S. 330-335
[PDF, 1MB]
Schalk, Audrey; Cousin, Margot A.; Dsouza, Nikita R.; Challman, Thomas D.; Wain, Karen E.; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien
ORCID: https://orcid.org/0000-0002-3457-5684; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna
ORCID: https://orcid.org/0000-0001-7314-5962; Gabau, Elizabeth; Stolerman, Elliot
ORCID: https://orcid.org/0000-0001-9536-4621; Washington, Camerun; Louie, Ray; Lanpher, Brendan C.; Kemppainen, Jennifer L.; Innes, Micheil; Kooy, Frank
ORCID: https://orcid.org/0000-0003-2024-0485; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois
ORCID: https://orcid.org/0000-0002-9110-1856; Vera, Gabriella; Diderich, Karin E. M.; Sheidley, Beth; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F.; Michaud, Jacques L.; Lewis, Ann J; Zweier, Christiane; Reis, André
ORCID: https://orcid.org/0000-0002-6301-6363; Wagner, Matias
ORCID: https://orcid.org/0000-0002-4454-8823; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine
ORCID: https://orcid.org/0000-0002-0242-4566; Mignot, Cyril; Gassen, Koen van; Brilstra, Eva H.; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A.; Korf, Bruce Richard; Skelton, Tammi; Thompson, Michelle; Robin, Nathaniel H.; Rudy, Natasha L.; Dobyns, William B.; Foss, Kimberly; Zarate, Yuri Alexander; Bosanko, Katherine A.; Alembik, Yves; Durand, Benjamin; Tran Mau-them, Frederic
ORCID: https://orcid.org/0000-0002-3795-9456; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E.; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari; Zimmermann, Michael T.; Klee, Eric W.
ORCID: https://orcid.org/0000-0003-2946-5795; Piton, Amelie
ORCID: https://orcid.org/0000-0003-0408-7468 und Gerard, Benedicte
(2021):
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 965-975
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Sat Aug 10 22:25:55 2024 CEST
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