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
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome 2020 . Ufartes, Roser \| Berger, Hanna \| Till, Katharina \| Salinas, Gabriela \| Sturm, Marc \| Altmüller, Janine \| Nürnberg, Peter \| Thiele, Holger \| Funke, Rudolf \| Apeshiotis, Neophytos \| Langen, Hendrik \| Wollnik, Bernd \| Borchers, Annette \| , Silke	2020	http://purl.org/ontology/bibo/Article
Neuronal activity regulates alternative exon usage 2020 . Denkena, Johanna \| Zaisser, Andrea \| Merz, Barbara \| Klinger, Bertram \| Kuhl, Dietmar \| Blüthgen, Nils \| Hermey, Guido	2020	http://purl.org/ontology/bibo/Article

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