Fachrepositorium Lebenswissenschaften

2 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation 2024 . Bosch, Elisabeth \| Güse, Esther \| Kirchner, Philipp \| Winterpacht, Andreas \| Walther, Mona \| Alders, Marielle \| Kerkhof, Jennifer \| Ekici, Arif B. \| Sticht, Heinrich \| Sadikovic, Bekim \| Reis, André \| Vasileiou, Georgia	2024		http://purl.org/ontology/bibo/Article
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

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