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5 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
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
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project) 2023 . Gippert, Sebastian \| Wagner, Matias \| Brunet, Theresa \| Berruti, Riccardo \| Brugger, Melanie \| Schwaibold, Eva \| Haack, Tobias \| Hoffmann, Georg \| Bettendorf, Markus \| Choukair, Daniela	2023		http://purl.org/ontology/bibo/Article
Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature 2021 . Hainz, Daniela \| Krüger, Marcus \| Reber, Daniela \| Mehnert, Karl \| Brunet, Theresa \| Lederer, Gabriele \| Langer-Freitag, Sabine \| Hoefele, Julia	2021		http://purl.org/ontology/bibo/Article
Clinico-genetic findings in 509 frontotemporal dementia patients 2021 . Wagner, Matias \| Lorenz, Georg \| Volk, Alexander E. \| Brunet, Theresa \| Edbauer, Dieter \| BERUTTI, RICCARDO \| Zhao, Chen \| Anderl-Straub, Sarah \| Bertram, Lars \| Danek, Adrian \| Deschauer, Marcus \| Dill, Veronika \| Fassbender, Klaus \| Fliessbach, Klaus \| Götze, Katharina S. \| Jahn, Holger \| Kornhuber, Johannes \| Landwehrmeyer, Bernhard \| Lauer, Martin \| Obrig, Hellmuth \| Prudlo, Johannes \| Schneider, Anja \| Schroeter, Matthias L. \| Uttner, Ingo \| Vukovich, Ruth \| Wiltfang, Jens \| Winkler, Andrea S. \| Zhou, Qihui \| Ludolph, Albert C. \| Oexle, Konrad \| Otto, Markus \| Diehl-Schmid, Janine \| Winkelmann, Juliane	2021		http://purl.org/ontology/bibo/Article
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections 2021 . Lotz-Havla, Amelie S. \| Weiß, Katharina J. \| Schiergens, Katharina A. \| Brunet, Theresa \| Kohlhase, Jürgen \| Regenauer-Vandewiele, Stephanie \| Maier, Esther	2021		http://purl.org/ontology/bibo/Article