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2 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy 2021 . Parenti, Ilaria \| Lehalle, Daphné \| Nava, Caroline \| Torti, Erin \| Leitão, Elsa \| Person, Richard \| Mizuguchi, Takeshi \| Matsumoto, Naomichi \| Kato, Mitsuhiro \| Nakamura, Kazuyuki \| de Man, Stella \| Cope, Heidi \| Shashi, Vandana \| Friedman, Jennifer \| Joset, Pascal \| Steindl, Katharina \| Rauch, Anita \| Muffels, Irena \| van Hasselt, Peter M \| petit, florence \| Smol, Thomas \| Le Guyader, Gwenaël \| Bilan, Frédéric \| Sorlin, Arthur \| Vitobello, Antonio \| PHILIPPE, Christophe \| van de Laar, Ingrid \| van Slegtenhorst, Marjon A. \| Campeau, Philippe \| Au, Ping Yee \| Nakashima, Mitsuko \| Saitsu, Hirotomo \| Yamamoto, Tatsuya \| Nomura, Yumiko \| Louie, Raymond \| Lyons, Michael \| Dobson, Amy \| Plomp, Astrid S. \| Motazacker, M. Mahdi \| Kaiser, Frank J. \| Timberlake, Andrew \| Fuchs, Sabine \| Depienne, Christel \| Mignot, Cyril	2021		http://purl.org/ontology/bibo/Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders 2021 . Mannucci, Ilaria \| Dang, Nghi D. P. \| Huber, Hannes \| Murry, Jaclyn B. \| Abramson, Jeff \| Althoff, Thorsten \| Banka, Siddharth \| Baynam, Gareth \| Bearden, David \| Beleza-Meireles, Ana \| Benke, Paul J. \| Berland, Siren \| Bierhals, Tatjana \| Bilan, Frederic \| Bindoff, Laurence A. \| Braathen, Geir Julius \| Busk, Øyvind L. \| Chenbhanich, Jirat \| Denecke, Jonas \| Escobar, Luis F. \| Estes, Caroline \| Fleischer, Julie \| Groepper, Daniel \| Haaxma, Charlotte A. \| Hempel, Maja \| Holler-Managan, Yolanda \| Houge, Gunnar \| Jackson, Adam \| Kellogg, Laura \| Keren, Boris \| Kiraly-Borri, Catherine \| Kraus, Cornelia \| Kubisch, Christian \| Le Guyader, Gwenael \| Ljungblad, Ulf W. \| Brenman, Leslie Manace \| Martinez-Agosto, Julian A. \| Might, Matthew \| Miller, David T. \| Minks, Kelly Q. \| Moghaddam, Billur \| Nava, Caroline \| Nelson, Stanley F. \| Parant, John M. \| Prescott, Trine \| Rajabi, Farrah \| Randrianaivo, Hanitra \| Reiter, Simone F. \| Schuurs-Hoeijmakers, Janneke \| Shieh, Perry B. \| Slavotinek, Anne \| Smithson, Sarah \| Stegmann, Alexander P. A. \| Tomczak, Kinga \| Tveten, Kristian \| Wang, Jun \| Whitlock, Jordan H. \| Zweier, Christiane \| McWalter, Kirsty \| Juusola, Jane \| Quintero-Rivera, Fabiola \| Fischer, Utz \| Yeo, Nan Cher \| Kreienkamp, Hans-Jürgen \| Lessel, Davor	2021		http://purl.org/ontology/bibo/Article