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5 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Functional characterization of two DYRK1B variants causative of AOMS3 2024 . Detro-Dassen, Silvia \| Sternberg, Anna \| Lehmann, Sonja Maria \| Schwandt, Katharina \| Düsterhöft, Stefan \| Becker, Walter	2024		http://purl.org/ontology/bibo/Article
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants 2021 . Kloth, Katja \| Lozic, Bernarda \| Tagoe, Julia \| Hoffer, Mariëtte J. V. \| Van der Ven, Amelie \| Thiele, Holger \| Altmüller, Janine \| Kubisch, Christian \| Au, Ping Yee Billie \| Denecke, Jonas \| Bijlsma, Emilia K. \| Lessel, Davor	2021		http://purl.org/ontology/bibo/Article
The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification 2020 . Becker, Lena-Luise \| Dafsari, Hormos Salimi \| Schallner, Jens \| Abdin, Dalia \| Seifert, Michael \| petit, florence \| Smol, Thomas \| Bok, Levinus \| Rodan, Lance \| Krapels, Ingrid \| Spranger, Stephanie \| Weschke, Bernhard \| Johnson, Katherine \| Straub, Volker \| Kaindl, Angela M. \| Di Donato, Nataliya \| von der Hagen, Maja \| Cirak, Sebahattin	2020		http://purl.org/ontology/bibo/Article
Targeting of δ-catenin to postsynaptic sites through interaction with the Shank3 N-terminus 2020 . Hassani Nia, Fatemeh \| Woike, Daniel \| Martens, Victoria \| Klüssendorf, Malte \| Hönck, Hans-Hinrich \| Harder, Sönke \| Kreienkamp, Hans-Jürgen	2020		http://purl.org/ontology/bibo/Article
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis 2020 . Ganapathi, Mythily \| Argyriou, Loukas \| Martínez-Azorín, Francisco \| Morlot, Susanne \| Yigit, Gökhan \| Lee, Teresa \| Auber, Bernd \| von Gise, Alexander \| Petrey, Donald S. \| Thiele, Holger \| Cyganek, Lukas \| Sabater-Molina, Maria \| Ahimaz, Priyanka \| Cabezas-Herrera, Juan \| Sorlí García , Moises \| Zibat, Arne \| Siegelin, Markus \| Burfeind, Peter \| Buchovecky, Christie M. \| Hasenfuss, Gerd \| Honig, Barry \| Li, Yun \| Iglesias, Alejandro \| Wollnik, Bernd	2020		http://purl.org/ontology/bibo/Article