Rezultaty - Gamble, Candace

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population od Gonzaga-Jauregui, Claudia, Gamble, Candace N, Yuan, Bo, Penney, Samantha, Jhangiani, Shalini, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Hecht, Jacqueline T

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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder od Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, Jérémie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angélique, Jean, Nolwenn, Van Ness, Paul, Grotto, Sarah, Nambot, Sophie, Douglas, Ganka, Si, Yue Cindy, Chelly, Jamel, Shad, Zohra, Kaplan, Elisabeth, Dineen, Richard, Golzio, Christelle, Charlet-Berguerand, Nicolas, Mandel, Jean-Louis, Piton, Amélie

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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies od Platzer, Konrad, Sticht, Heinrich, Edwards, Stacey L., Allen, William, Angione, Kaitlin M., Bonati, Maria T., Brasington, Campbell, Cho, Megan T., Demmer, Laurie A., Falik-Zaccai, Tzipora, Gamble, Candace N., Hellenbroich, Yorck, Iascone, Maria, Kok, Fernando, Mahida, Sonal, Mandel, Hanna, Marquardt, Thorsten, McWalter, Kirsty, Panis, Bianca, Pepler, Alexander, Pinz, Hailey, Ramos, Luiza, Shinde, Deepali N., Smith-Hicks, Constance, Stegmann, Alexander P.A., Stöbe, Petra, Stumpel, Constance T.R.M., Wilson, Carolyn, Lemke, Johannes R., Di Donato, Nataliya, Miller, Kenneth G., Jamra, Rami

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Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons od Runge, Karen, Mathieu, Rémi, Bugeon, Stéphane, Lafi, Sahra, Beurrier, Corinne, Sahu, Surajit, Schaller, Fabienne, Loubat, Arthur, Herault, Leonard, Gaillard, Stéphane, Pallesi-Pocachard, Emilie, Montheil, Aurélie, Bosio, Andreas, Rosenfeld, Jill A., Hudson, Eva, Lindstrom, Kristin, Mercimek-Andrews, Saadet, Jeffries, Lauren, van Haeringen, Arie, Vanakker, Olivier, Van Hecke, Audrey, Amrom, Dina, Küry, Sebastien, Ratner, Chana, Jethva, Reena, Gamble, Candace, Jacq, Bernard, Fasano, Laurent, Santpere, Gabriel, Lorente-Galdos, Belen, Sestan, Nenad, Gelot, Antoinette, Giacuzz, Sylvie, Goebbels, Sandra, Represa, Alfonso, Cardoso, Carlos, Cremer, Harold, de Chevigny, Antoine

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Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons od Runge, Karen, Mathieu, Rémi, Bugeon, Stéphane, Lafi, Sahra, Beurrier, Corinne, Sahu, Surajit, Schaller, Fabienne, Loubat, Arthur, Herault, Leonard, Gaillard, Stéphane, Pallesi-Pocachard, Emilie, Montheil, Aurélie, Bosio, Andreas, Rosenfeld, Jill A., Hudson, Eva, Lindstrom, Kristin, Mercimek-Andrews, Saadet, Jeffries, Lauren, van Haeringen, Arie, Vanakker, Olivier, Van Hecke, Audrey, Amrom, Dina, Küry, Sebastien, Ratner, Chana, Jethva, Reena, Gamble, Candace, Jacq, Bernard, Fasano, Laurent, Santpere, Gabriel, Lorente-Galdos, Belen, Sestan, Nenad, Gelot, Antoinette, Giacuzz, Sylvie, Goebbels, Sandra, Represa, Alfonso, Cardoso, Carlos, Cremer, Harold, de Chevigny, Antoine

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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 od 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.

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