Search Results - Pichurin, P. N

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    Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study by Ercan, Ayse Bahar, Aronson, Melyssa, Chang, Yuan, Liu, Zhihui Amy, Negm, Logine, Edwards, Melissa, Chung, Jiil, Reschke, Agnes, Lion, Alex, Ahmad, Alia, Lassaletta, Alvaro, Al-Darraji, Amir F, Shah, Amish C, Van Damme, An, Bendel, Anne, Rashid, Aqeela, Margol, Ashley S, Kelly, Bethany L, Heald, Brandie, Lemieux-Anglin, Brianna, Crooks, Bruce, Koschmann, Carl, Gilpin, Catherine, Gass, David, Samuel, David, Ziegler, David S, Blumenthal, Deborah T, Kuo, Dennis John, Hamideh, Dima, Basel, Donald, Stearns, Duncan, Opocher, Enrico, Toledano, Helen, Winer, Ira, Fedorakova, Ivana, Su, Jack M, Vengoechea, Jaime, Sterba, Jaroslav, Knipstein, Jeffrey, Hansford, Jordan R, Bhatia, Kanika, Minhas, Khurram, Nichols, Kim E, Cole, Kristina A, Penney, Lynette, Hjort, Magnus Aasved, Sabel, Magnus, Murray, Matthew J, Miller, Matthew, Blundell, Maude L, Massimino, Maura, Al-Hussaini, Maysa, Comito, Melanie A, Osborn, Michael, Link, Michael P, Zapotocky, Michal, Ghalibafian, Mithra, Mushtaq, Naureen, Hijiya, Nobuko, Fuentes-Bolanos, Noemi, Ahmad, Olfat, Chamdine, Omar, Pichurin, Pavel N, Nyman, Per, Auer, Rebecca C, Sukumaran, Reghu K, Kebudi, Rejin, Dvir, Rina, Raphael, Robert, Elhasid, Ronit, Chami, Rose, Noss, Ryan, Tanaka, Ryuma, Raskin, Salmo, Sen, Santanu, Lindhorst, Scott, Caspi, Shani, Riaz, Shazia, Constantini, Shlomi, Albert, Sophie, Chaleff, Stanley, Chiaravalli, Stefano, Roy, Sumita, Cahn, Suzanne, Hamid, Syed Ahmer, Ghafoor, Tariq, Imam, Uzma, Larouche, Valerie, Magimairajan Issai, Vanan, Foulkes, William D, Lee, Yi Yen, Nathan, Paul C, Maruvka, Yosef E, Greer, Mary-Louise C, Durno, Carol, Shlien, Adam, Malkin, David, Hawkins, Cynthia, Das, Anirban, Tabori, Uri

    Published in The lancet oncology
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    Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder by Blackburn, Patrick R., Ebstein, Frédéric, Hsieh, Tzung‐Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C., Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gerard, Bénédicte, Smol, Thomas, Vincent‐Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann‐Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne‐Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S., Rosenfeld, Jill A., Faivre, Laurence, Mau‐Them, Frederic Tran, Deb, Wallid, Vignard, Virginie, Agrawal, Pankaj B., Madden, Jill A., Goldenberg, Alice, Lecoquierre, François, Zech, Michael, Prokisch, Holger, Necpál, Ján, Jech, Robert, Winkelmann, Juliane, Koprušáková, Monika Turčanová, Konstantopoulou, Vassiliki, Younce, John R., Shinawi, Marwan, Mighton, Chloe, Fung, Charlotte, Morel, Chantal F., Lerner‐Ellis, Jordan, DiTroia, Stephanie, Barth, Magalie, Bonneau, Dominique, Krapels, Ingrid, Stegmann, Alexander P.A., Schoot, Vyne, Brunet, Theresa, Bußmann, Cornelia, Mignot, Cyril, Zampino, Giuseppe, Wortmann, Saskia B., Mayr, Johannes A., Feichtinger, René G., Courtin, Thomas, Ravelli, Claudia, Keren, Boris, Ziegler, Alban, Hasadsri, Linda, Pichurin, Pavel N., Klee, Eric W., Grand, Katheryn, Sanchez‐Lara, Pedro A., Krüger, Elke, Bézieau, Stéphane, Klinkhammer, Hannah, Krawitz, Peter Michael, Eichler, Evan E., Tartaglia, Marco, Küry, Sébastien, Wang, Tianyun

    Published in Annals of neurology
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