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5 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities 2024 . Kakar, Naseebullah \| Mascarenhas, Selinda \| Ali, Asmat \| Ijlal Haider, Syed M. \| Badiger, Vaishnavi Ashok \| Ghofrani, Mobina Shadman \| Kruse, Nathalie \| Hashmi, Sohana Nadeem \| Pozojevic, Jelena \| Balachandran, Saranya \| Toft, Mathias \| Malik, Sajid \| Händler, Kristian \| Fatima, Ambrin \| Iqbal, Zafar \| Shukla, Anju \| Spielmann, Malte \| Radhakrishnan, Periyasamy	2024		http://purl.org/ontology/bibo/Article
Genetic variants in patients with multiple arterial aneurysms 2024 . Körfer, Daniel \| Grond-Ginsbach, Caspar \| Peters, Andreas S. \| Burkart, Sebastian \| Hempel, Maja \| Schaaf, Christian P. \| Böckler, Dittmar \| Erhart, Philipp	2024		http://purl.org/ontology/bibo/Article
Clinico-genetic findings in 509 frontotemporal dementia patients 2021 . Wagner, Matias \| Lorenz, Georg \| Volk, Alexander E. \| Brunet, Theresa \| Edbauer, Dieter \| BERUTTI, RICCARDO \| Zhao, Chen \| Anderl-Straub, Sarah \| Bertram, Lars \| Danek, Adrian \| Deschauer, Marcus \| Dill, Veronika \| Fassbender, Klaus \| Fliessbach, Klaus \| Götze, Katharina S. \| Jahn, Holger \| Kornhuber, Johannes \| Landwehrmeyer, Bernhard \| Lauer, Martin \| Obrig, Hellmuth \| Prudlo, Johannes \| Schneider, Anja \| Schroeter, Matthias L. \| Uttner, Ingo \| Vukovich, Ruth \| Wiltfang, Jens \| Winkler, Andrea S. \| Zhou, Qihui \| Ludolph, Albert C. \| Oexle, Konrad \| Otto, Markus \| Diehl-Schmid, Janine \| Winkelmann, Juliane	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
A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer’s disease 2020 . Sepulveda-Falla, Diego \| Chavez-Gutierrez, Lucia \| Portelius, Erik \| Vélez, Jorge I. \| Dujardin, Simon \| Barrera-Ocampo, Alvaro \| Dinkel, Felix \| Hagel, Christian \| Puig, Berta \| Mastronardi, Claudio \| Lopera, Francisco \| Hyman, Bradley T. \| Blennow, Kaj \| Arcos-Burgos, Mauricio \| de Strooper, Bart \| Glatzel, Markus	2020		http://purl.org/ontology/bibo/Article