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RICTOR variants are associated with neurodevelopmental disorders von Carapito, Raphael, Molitor, Anne, Pavinato, Lisa, Skeyni, Alaa, Lambert, Magalie, Pichot, Angélique, Jiang, Jiuhong, Spinnhirny, Perrine, Zimmermann, Lucie, Boucher, Philippe, Chung, Clara W T, Elserafy, Noha, Blair, Edward M, Li, Dong, Elisabeth, Bhoj, Kotzaeridou, Urania, Karch, Stephanie, Wagner, Matias, Lunsing, Roelineke J, Pfundt, Rolph, Boycott, Kym M, Bruel, Ange-Line, Mau-Them, Frédéric Tran, Moutton, Sébastien, Conti, Valerio, Mei, Davide, Cetica, Valentina, Guerrini, Renzo, Brunet, Theresa, Rump, Patrick, Mussa, Alessandro, Brusco, Alfredo, Lemire, Gabrielle, de Vries, Bert B A, Miao, Zhichao, Isidor, Bertrand, Bahram, Seiamak
Veröffentlicht in European journal of human genetics : EJHG
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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay von Vissers, Lisenka E.L.M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E.V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J., Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G., Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, Raymond, F. Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D. Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E., Murrell, Jill R., Wood, Kathleen, Cho, Megan T., van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P.M.
Veröffentlicht in American journal of human genetics
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