Fachrepositorium Lebenswissenschaften

3 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
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses 2023 . Krenn, Martin \| Wagner, Matias \| Zulehner, Gudrun \| Weng, Rosa \| Jäger, Fiona \| Keritam, Omar \| Sener, Merve \| Brücke, Christof \| Milenkovic, Ivan \| Langer, Agnes \| Buchinger, Dominic \| Habersam, Richard \| Mayerhanser, Katharina \| Brugger, Melanie \| Brunet, Theresa \| Jacob, Maureen \| Graf, Elisabeth \| Berutti, Riccardo \| Cetin, Hakan \| Hoefele, Julia \| Winkelmann, Juliane \| Zimprich, Fritz \| Rath, Jakob	2023	http://purl.org/ontology/bibo/Article

Suche