Fachrepositorium Lebenswissenschaften | Freier Zugang zu Wissensressourcen aus den Lebenswissenschaften

Wegen Wartungsarbeiten kann die Erreichbarkeit des Fachrepositorium am 26. September 2025 eingeschränkt sein.

3 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) 2024 . Schmitz, Anne S. \| Raju, Janani \| Köhler, Wolfgang \| Klebe, Stephan \| Cheheb, Khaled \| Reschke, Franziska \| Biskup, Saskia \| Haack, Tobias B. \| Roeben, Benjamin \| Kellner, Melanie \| Rahner, Nils \| Bloch, Thomas \| Lemke, Johannes \| Bender, Benjamin \| Schöls, Ludger \| Hengel, Holger \| Hayer, Stefanie Nicole	2024		http://purl.org/ontology/bibo/Article
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder 2024 . Albuainain, Fatimah \| Shi, Yuwei \| Lor-Zade, Sarah \| Hüffmeier, Ulrike \| Pauly, Melissa \| Reis, André \| Faivre, Laurence \| Maraval, Julien \| Bruel, Ange-Line \| Tran Mau Them, Frederic \| Haack, Tobias B. \| Grasshoff, Ute \| Horber, Veronka \| Schot, Rachel \| van Slegtenhorst, Marjon \| Wilke, Martina \| Barakat, Stefan	2024		http://purl.org/ontology/bibo/Article
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery 2020 . Hengel, Holger \| Buchert, Rebecca \| Sturm, Marc \| Haack, Tobias B. \| Schelling, Yvonne \| Mahajnah, Muhammad \| Sharkia, Rajech \| Azem, Abdussalam \| Balousha, Ghassan \| Ghanem, Zaid \| falana, mohammed \| Balousha, Osama \| Ayesh, Suhail \| Keimer, Reinhard \| Deigendesch, Werner \| Zaidan, Jimmy \| Marzouqa, Hiyam \| Bauer, Peter \| Schöls, Ludger	2020		http://purl.org/ontology/bibo/Article