Fachrepositorium Lebenswissenschaften

2 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly 2024 . Herbst, Charlotte \| Bothe, Viktoria \| Wegler, Meret \| Axer-Schaefer, Susanne \| Audebert-Bellanger, Séverine \| Gecz, Jozef \| Cogne, Benjamin \| Feldman, Hagit Baris \| Horn, Anselm H. C. \| Hurst, Anna C. E. \| Kelly, Melissa A. \| Kruer, Michael C. \| Kurolap, Alina \| Laquerriere, Annie \| Li, Megan \| Mark, Paul R. \| Morawski, Markus \| Nizon, Mathilde \| Pastinen, Tomi \| Polster, Tilman \| Saugier-Veber, Pascale \| SeSong, Jang \| Sticht, Heinrich \| Stieler, Jens T. \| Thifffault, Isabelle \| van Eyk, Clare L. \| Marcorelles, Pascale \| Vezain-Mouchard, Myriam \| Abou Jamra, Rami \| Oppermann, Henry	2024		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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