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3 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression 2024 . Pehlivan, Davut \| Bengtsson, Jesse D. \| Bajikar, Sameer \| Grochowski, Christopher M. \| Lun, Ming Yin \| Gandhi, Mira \| Jolly, Angad \| Trostle, Alexander J. \| Harris, Holly K. \| Suter, Bernhard \| Aras, Sukru \| Ramocki, Melissa B. \| Du, Haowei \| Mehaffey, Michele G. \| Park, KyungHee \| Wilkey, Ellen \| Karakas, Cemal \| Eisfeldt, Jesper J. \| Pettersson, Maria \| Liu, Lynn \| Shinawi, Marwan S. \| Kimonis, Virginia E. \| Wiszniewski, Wojciech \| Mckenzie, Kyle \| Roser, Timo \| Vianna-Morgante, Angela M. \| Cornier, Alberto S. \| Abdelmoity, Ahmed \| Hwang, James P. \| Jhangiani, Shalini N. \| Muzny, Donna M. \| Mitani, Tadahiro \| Muramatsu, Kazuhiro \| Nabatame, Shin \| Glaze, Daniel G. \| Fatih, Jawid M. \| Gibbs, Richard A. \| Liu, Zhandong \| Lindstrand, Anna \| Sedlazeck, Fritz J. \| Lupski, James R. \| Zoghbi, Huda \| Carvalho, Claudia MB	2024		http://purl.org/ontology/bibo/Article
Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations 2024 . Lebeda, Dennis \| Fierenz, Adrian \| Werfel, Lina \| Rosin-Arbesfeld, Rina \| Hofhuis, Julia \| Thoms, Sven	2024		http://purl.org/ontology/bibo/Article
MeCP2 gates spatial learning-induced alternative splicing events in the mouse hippocampus 2020 . Vilhena Catarino Brito, David \| Gulmez Karaca, Kubra \| Kupke, Janina \| Frank, Lukas \| Oliveira, Ana M.M.	2020		http://purl.org/ontology/bibo/Article