Resultats de la cerca - Marey, Isabelle

Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria—Case Report per Knapke, Antje, Bourdat Michel, Guylhène, Marey, Isabelle, Le Tanno, Pauline

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Acute Regression in Young People with Down Syndrome per Mircher, Clotilde, Cieuta-Walti, Cécile, Marey, Isabelle, Rebillat, Anne-Sophie, Cretu, Laura, Milenko, Eliane, Conte, Martine, Sturtz, Franck, Rethore, Marie-Odile, Ravel, Aimé

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Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy per Marey, Isabelle, Fressart, Véronique, Rambaud, Caroline, Fornes, Paul, Martin, Laurent, Grotto, Sarah, Alembik, Yves, Gorka, Hervé, Millat, Gilles, Gandjbakhch, Estelle, Bordet, Céline, de la Grandmaison, Geoffroy Lorin, Richard, Pascale, Charron, Philippe

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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures per Ito, Yoko, Carss, Keren J., Duarte, Sofia T., Hartley, Taila, Keren, Boris, Kurian, Manju A., Marey, Isabelle, Charles, Perinne, Mendonça, Carla, Nava, Caroline, Pfundt, Rolph, Sanchis-Juan, Alba, van Bokhoven, Hans, van Essen, Anthony, van Ravenswaaij-Arts, Conny, Boycott, Kym M., Kernohan, Kristin D., Dyack, Sarah, Raymond, F. Lucy

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Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype per Kojic, Marija, Gawda, Tomasz, Gaik, Monika, Begg, Alexander, Salerno-Kochan, Anna, Kurniawan, Nyoman D., Jones, Alun, Drożdżyk, Katarzyna, Kościelniak, Anna, Chramiec-Głąbik, Andrzej, Hediyeh-Zadeh, Soroor, Kasherman, Maria, Shim, Woo Jun, Sinniah, Enakshi, Genovesi, Laura A., Abrahamsen, Rannvá K., Fenger, Christina D., Madsen, Camilla G., Cohen, Julie S., Fatemi, Ali, Stark, Zornitza, Lunke, Sebastian, Lee, Joy, Hansen, Jonas K., Boxill, Martin F., Keren, Boris, Marey, Isabelle, Saenz, Margarita S., Brown, Kathleen, Alexander, Suzanne A., Mureev, Sergey, Batzilla, Alina, Davis, Melissa J., Piper, Michael, Bodén, Mikael, Burne, Thomas H. J., Palpant, Nathan J., Møller, Rikke S., Glatt, Sebastian, Wainwright, Brandon J.

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Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) per Bramswig, Nuria C., Bertoli-Avella, Aida M., Albrecht, Beate, Aqeel, Aida I. Al, Alhashem, Amal, Al-Sannaa, Nouriya, Bah, Maissa, Bröhl, Katharina, Depienne, Christel, Dorison, Nathalie, Doummar, Diane, Ehmke, Nadja, Elbendary, Hasnaa M., Gorokhova, Svetlana, Héron, Delphine, Horn, Denise, James, Kiely, Keren, Boris, Kuechler, Alma, Ismail, Samira, Issa, Mahmoud Y., Marey, Isabelle, Mayer, Michèle, McEvoy-Venneri, Jennifer, Megarbane, Andre, Mignot, Cyril, Mohamed, Sarar, Nava, Caroline, Philip, Nicole, Ravix, Cecile, Rolfs, Arndt, Sadek, Abdelrahim Abdrabou, Segebrecht, Lara, Stanley, Valentina, Trautman, Camille, Valence, Stephanie, Villard, Laurent, Wieland, Thomas, Engels, Hartmut, Strom, Tim M., Zaki, Maha S., Gleeson, Joseph G., Lüdecke, Hermann-Josef, Bauer, Peter, Wieczorek, Dagmar

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A framework to identify contributing genes in patients with Phelan-McDermid syndrome per Tabet, Anne-Claude, Rolland, Thomas, Ducloy, Marie, Lévy, Jonathan, Buratti, Julien, Mathieu, Alexandre, Haye, Damien, Perrin, Laurence, Dupont, Céline, Passemard, Sandrine, Capri, Yline, Verloes, Alain, Drunat, Séverine, Keren, Boris, Mignot, Cyril, Marey, Isabelle, Jacquette, Aurélia, Whalen, Sandra, Pipiras, Eva, Benzacken, Brigitte, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Héron, Delphine, Le Caignec, Cédric, Beneteau, Claire, Pichon, Olivier, Isidor, Bertrand, David, Albert, El Khattabi, Laila, Kemeny, Stephan, Gouas, Laetitia, Vago, Philippe, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Missirian, Chantal, Philip, Nicole, Sanlaville, Damien, Edery, Patrick, Satre, Véronique, Coutton, Charles, Devillard, Françoise, Dieterich, Klaus, Vuillaume, Marie-Laure, Rooryck, Caroline, Lacombe, Didier, Pinson, Lucile, Gatinois, Vincent, Puechberty, Jacques, Chiesa, Jean, Lespinasse, James, Dubourg, Christèle, Quelin, Chloé, Fradin, Mélanie, Journel, Hubert, Toutain, Annick, Martin, Dominique, Benmansour, Abdelamdjid, Leblond, Claire S., Toro, Roberto, Amsellem, Frédérique, Delorme, Richard, Bourgeron, Thomas

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Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome per Tabet, Anne-Claude, Rolland, Thomas, Ducloy, Marie, Lévy, Jonathan, Buratti, Julien, Mathieu, Alexandre, Haye, Damien, Perrin, Laurence, Dupont, Céline, Passemard, Sandrine, Capri, Yline, Verloes, Alain, Drunat, Séverine, Keren, Boris, Mignot, Cyril, Marey, Isabelle, Jacquette, Aurélia, Whalen, Sandra, Pipiras, Eva, Benzacken, Brigitte, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Héron, Delphine, Le Caignec, Cédric, Beneteau, Claire, Pichon, Olivier, Isidor, Bertrand, David, Albert, El Khattabi, Laila, Kemeny, Stephan, Gouas, Laetitia, Vago, Philippe, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Missirian, Chantal, Philip, Nicole, Sanlaville, Damien, Edery, Patrick, Satre, Véronique, Coutton, Charles, Devillard, Françoise, Dieterich, Klaus, Vuillaume, Marie-Laure, Rooryck, Caroline, Lacombe, Didier, Pinson, Lucile, Gatinois, Vincent, Puechberty, Jacques, Chiesa, Jean, Lespinasse, James, Dubourg, Christèle, Quelin, Chloé, Fradin, Mélanie, Journel, Hubert, Toutain, Annick, Martin, Dominique, Benmansour, Abdelamdjid, Leblond, Claire S., Toro, Roberto, Amsellem, Frédérique, Delorme, Richard, Bourgeron, Thomas

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Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency per Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R., Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J., Schnur, Rhonda E., Zhu, Zehua, Poisson, Alice, Chehadeh, Salima El, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J., Masser-Frye, Diane, Bird, Lynne M., Lindstrom, Kristin, Ramsey, Keri M., Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G., Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H., Wassink-Ruiter, Klein Jolien S., Bijlsma, Emilia, Hoffer, Mariëtte J. V., Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A., Machol, Keren, Scott, Daryl A., Bacino, Carlos A., Wang, Xia, Clark, Gary D., Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H., Akay, Ela, Chang, Richard C., Bressi, Rebekah, Russo, Rossana Sanchez, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E., Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W., Lefebvre, Véronique, Clark, Karl J., Depienne, Christel

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