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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
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 2024 . Stegmann, Jil Debora \| Kalanithy, Jeshurun C. \| Dworschak, Gabriel C. \| Ishorst, Nina \| Mingardo, Enrico \| Lopes, Filipa M. \| Ho, Yee Mang \| Grote, Phillip \| Lindenberg, Tobias T. \| Yilmaz, Öznur \| Channab, Khadija \| Seltzsam, Steve \| Shril, Shirlee \| Hildebrandt, Friedhelm \| Boschann, Felix \| Heinen, André \| Jolly, Angad \| Myers, Katherine \| McBride, Kim \| Bekheirnia, Mir Reza \| Bekheirnia, Nasim \| Scala, Marcello \| Morleo, Manuela \| Nigro, Vincenzo \| Torella, Annalaura \| TUDP consortium \| Pinelli, Michele \| Capra, Valeria \| Accogli, Andrea \| Maitz, Silvia \| Spano, Alice \| Olson, Rory J. \| Klee, Eric \| Lanpher, Brendan C. \| Jang, Se Song \| Chae, Jong-Hee \| Steinbauer, Philipp \| Rieder, Dietmar \| Janecke, Andreas R. \| Vodopiutz, Julia \| Vogel, Ida \| Blechingberg, Jenny \| Cohen, Jennifer L. \| Riley, Kacie \| Klee, Victoria \| Walsh, Laurence E. \| Begemann, Matthias \| Elbracht, Miriam \| Eggermann, Thomas \| Stoppe, Arzu \| Stuurman, Kyra \| van Slegtenhorst, Marjon \| Barakat, Stefan \| Mulhern, Maureen S. \| Sands, Tristan T. \| Cytrynbaum, Cheryl \| Weksberg, Rosanna \| Isidori, Federica \| Pippucci, Tommaso \| Severi, Giulia \| Montanari, Francesca \| Kruer, Michael \| Bakhtiari, Somayeh \| Darvish, Hossein \| Reutter, Heiko \| Hagelueken, Gregor \| Geyer, Matthias \| Woolf, Adrian Spencer \| Posey, Jennifer \| Lupski, James R. \| Odermatt, Benjamin \| Hilger, Alina Christine	2024		http://purl.org/ontology/bibo/Article