Fachrepositorium Lebenswissenschaften

3 Treffer

Kurzansicht	E-Jahr	Typ
Human genetic variant E756del in the ion channel PIEZO1 not associated with protection from severe malaria in a large Ghanaian study 2021 . Thye, Thorsten \| Evans, Jennifer A. \| Ruge, Gerd \| Loag, Wibke \| Ansong, Daniel \| Agbenyega, Tsiri \| Horstmann, Rolf D. \| May, Jürgen \| Schuldt, Kathrin	2021	http://purl.org/ontology/bibo/Article
A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects 2021 . Markus, Fenja \| Kannengießer, Annika \| Näder, Patricia \| Atigbire, Paul \| Scholten, Alexander \| Vössing, Christine \| Bültmann, Eva \| Korenke, G. Christoph \| Owczarek-Lipska, Marta \| Neidhardt, John	2021	http://purl.org/ontology/bibo/Article
The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification 2020 . Becker, Lena-Luise \| Dafsari, Hormos Salimi \| Schallner, Jens \| Abdin, Dalia \| Seifert, Michael \| petit, florence \| Smol, Thomas \| Bok, Levinus \| Rodan, Lance \| Krapels, Ingrid \| Spranger, Stephanie \| Weschke, Bernhard \| Johnson, Katherine \| Straub, Volker \| Kaindl, Angela M. \| Di Donato, Nataliya \| von der Hagen, Maja \| Cirak, Sebahattin	2020	http://purl.org/ontology/bibo/Article

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