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6 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy 2024 . Sajan, Samin A. \| Gradisch, Ralph \| Vogel, Florian D. \| Coffey, Alison \| Salyakina, Daria \| Soler, Diana \| Jayakar, Parul \| Jayakar, Anuj \| Bianconi, Simona E. \| Cooper, Annina H. \| Liu, Shuxi \| William, Nancy \| Benkel-Herrenbrück, Ira \| Maiwald, Robert \| Heller, Corina \| Biskup, Saskia \| Leiz, Steffen \| Westphal, Dominik Sebastian \| Wagner, Matias \| Clarke, Amy \| Stockner, Thomas \| Ernst, Margot \| Kesari, Akanchha \| Krenn, Martin	2024		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
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain 2021 . Neuser, Sonja \| krey, ilona \| Schwan, Annemarie \| Abou Jamra, Rami \| Bartolomaeus, Tobias \| Döring, Jan \| Syrbe, Steffen \| Plassmann, Margit \| Rohde, Stefan \| Roth, Christian \| Rehder, Helga \| Radtke, Maximilian \| Le Duc, Diana \| Schubert, Susanna \| Bermudez-Guzman, Luis \| Leal, Alejandro \| Schoner, Katharina \| Popp, Bernt	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
Depressive Emotionality Moderates the Influence of the BDNF Val66Met Polymorphism on Executive Functions and on Unconscious Semantic Priming 2020 . Sanwald, Simon \| Montag, Christian \| Kiefer, Markus	2020		http://purl.org/ontology/bibo/Article
Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia 2020 . Cheng, Fubo \| Walter, Michael \| Wassouf, Zinah \| Hentrich, Thomas \| Casadei, Nicolas \| Schulze-Hentrich, Julia \| Barbuti, Peter \| Krueger, Rejko \| Riess, Olaf \| Grundmann-Hauser, Kathrin \| Ott, Thomas	2020		http://purl.org/ontology/bibo/Article