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5 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Pleiotropic contribution of rbfox1 to psychiatric and neurodevelopmental phenotypes in two zebrafish models 2024 . Antón-Galindo, Ester \| Adel, Maja R. \| García-González, Judit \| Leggieri, Adele \| López-Blanch, Laura \| Irimia, Manuel \| Norton, William \| Brennan, Caroline \| Fernàndez-Castillo, Noèlia \| Cormand, Bru	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
Biallelic variants in YRDC cause a developmental disorder with progeroid features 2021 . Schmidt, Julia \| Goergens, Jonas \| Pochechueva, Tatiana \| Kotter, Annika \| Schwenzer, Niko \| Sitte, Maren \| Werner, Gesa \| Altmüller, Janine \| Thiele, Holger \| Nürnberg, Peter \| Isensee, Jörg \| Li, Yun \| Müller, Christian \| Leube, Barbara \| Reinhardt, H. Christian \| Hucho, Tim \| Salinas, Gabriela \| Helm, Mark \| Jachimowicz, Ron D. \| Wieczorek, Dagmar \| Kohl, Tobias \| Lehnart, Stephan E. \| Yigit, Gökhan \| Wollnik, Bernd	2021		http://purl.org/ontology/bibo/Article
Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders 2021 . Klau, Julia \| Abou Jamra, Rami \| Radtke, Maximilian \| Oppermann, Henry \| Lemke, Johannes \| Beblo, Skadi \| Popp, Bernt	2021		http://purl.org/ontology/bibo/Article
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability 2021 . Haag, Natja \| Tan, Ene-Choo \| Begemann, Matthias \| Buschmann, Lars \| Kraft, Florian \| Holschbach, Petra \| Lai, Angeline H. M. \| Brett, Maggie \| Mochida, Ganeshwaran H. \| DiTroia, Stephanie \| Pais, Lynn \| Neil, Jennifer E. \| Al-Saffar, Muna \| Bastaki, Laila \| Walsh, Christopher \| Kurth, Ingo \| Knopp, Cordula	2021		http://purl.org/ontology/bibo/Article