Fachrepositorium Lebenswissenschaften

4 Treffer

Kurzansicht	E-Jahr	Typ
Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients 2024 . Indelicato, Elisabetta \| Schlieben, Lea D. \| Stenton, Sarah L. \| Boesch, Sylvia \| Skorvanek, Matej \| Necpal, Jan \| Jech, Robert \| Winkelmann, Juliane \| Prokisch, Holger \| Zech, Michael	2024	http://purl.org/ontology/bibo/Article
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes 2024 . Sorrentino, Ugo \| Boesch, Sylvia \| Doummar, Diane \| Ravelli, Claudia \| Serranova, Tereza \| Indelicato, Elisabetta \| Winkelmann, Juliane \| Burglen, Lydie \| Jech, Robert \| Zech, Michael	2024	http://purl.org/ontology/bibo/Article
The importance of genetic testing for dystonia patients and translational research 2021 . Pozojevic, Jelena \| Beetz, Christian \| Westenberger, Ana	2021	http://purl.org/ontology/bibo/Article
Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia 2020 . Cheng, Fubo \| Walter, Michael \| Wassouf, Zinah \| Hentrich, Thomas \| Casadei, Nicolas \| Schulze-Hentrich, Julia \| Barbuti, Peter \| Krueger, Rejko \| Riess, Olaf \| Grundmann-Hauser, Kathrin \| Ott, Thomas	2020	http://purl.org/ontology/bibo/Article

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