Fachrepositorium Lebenswissenschaften

3 Treffer

Kurzansicht	E-Jahr	Typ
A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing 2024 . Holthöfer, Laura \| Diederich, Stefan \| Haug, Verena \| Lehmann, Lioba \| Hewel, Charlotte \| Paul, Norbert W. \| Schweiger, Susann \| Gerber, Susanne \| Linke, Matthias	2024	http://purl.org/ontology/bibo/Article
Multicenter evaluation of an automated, multiplex, RNA-based molecular assay for detection of ALK, ROS1, RET fusions and MET exon 14 skipping in NSCLC 2024 . Melchior, Linea \| Hirschmann, Astrid \| Hofman, Paul \| Bontoux, Christophe \| Concha, Angel \| Mrabet-Dahbi, Salima \| Vannuffel, Pascal \| Watkin, Emmanuel \| Putzová, Martina \| Scarpino, Stefania \| Cayre, Anne \| Martin, Paloma \| Stoehr, Robert \| Hartmann, Arndt	2024	http://purl.org/ontology/bibo/Article
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti 2024 . Eigemann, Jessica \| Janda, Ales \| Schuetz, Catharina \| Lee-Kirsch, Min Ae \| Schulz, Ansgar \| Hoenig, Manfred \| Furlan, Ingrid \| Jacobsen, Eva-Maria \| Zinngrebe, Julia \| Peters, Sarah \| Drewes, Cosima \| Siebert, Reiner \| Rump, Eva-Maria \| Führer, Marita \| Lorenz, Myriam \| Pannicke, Ulrich \| Kölsch, Uwe \| Debatin, Klaus-Michael \| von Bernuth, Horst \| Schwarz, Klaus \| Felgentreff, Kerstin	2024	http://purl.org/ontology/bibo/Article

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