Fachrepositorium Lebenswissenschaften

2 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies 2021 . Gripp, Karen \| Smithson, Sarah F. \| Scurr, Ingrid J. \| Baptista, Julia \| Majumdar, Anirban \| Pierre, Germaine \| Williams, Maggie \| Henderson, Lindsay B. \| Wentzensen, Ingrid M. \| McLaughlin, Heather \| Leeuwen, Lisette \| Simon, Marleen E. H. \| van Binsbergen, Ellen \| Dinulos, Mary Beth P. \| Kaplan, Julie D. \| McRae, Anne \| Superti-Furga, Andrea \| Good, Jean-Marc \| , Kerstin	2021		http://purl.org/ontology/bibo/Article
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype 2021 . Averdunk, Luisa \| Sticht, Heinrich \| Surowy, Harald \| Lüdecke, Hermann-Josef \| Koch-Hogrebe, Margarete \| Alsaif, Hessa S. \| Kahrizi, Kimia \| Alzaidan, Hamad \| Alawam, Bashayer S. \| Tohary, Mohamed \| Kraus, Cornelia \| Endele, Sabine \| Wadman, Erin \| Kaplan, Julie D. \| Efthymiou, Stephanie \| Najmabadi, Hossein \| Reis, André \| Alkuraya, Fowzan S. \| Wieczorek, Dagmar	2021		http://purl.org/ontology/bibo/Article

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