학술논문
'학술논문'
에서 검색결과 79건 | 목록
1~10
Academic Journal
Leitão, Elsa; Schröder, Christopher; Parenti, Ilaria; Dalle, Carine; Rastetter, Agnès; Kühnel, Theresa; Kuechler, Alma; Kaya, Sabine; Gérard, Bénédicte; Schaefer, Elise; Nava, Caroline; Drouot, Nathalie; Engel, Camille; Piard, Juliette; Duban-Bedu, Bénédicte; Villard, Laurent; Stegmann, Alexander PA; Vanhoutte, Els K; Verdonschot, Job AJ; Kaiser, Frank J; Tran Mau-Them, Frédéric; Scala, Marcello; Striano, Pasquale; Frints, Suzanna GM; Argilli, Emanuela; Sherr, Elliott H; Elder, Fikret; Buratti, Julien; Keren, Boris; Mignot, Cyril; Héron, Delphine; Mandel, Jean-Louis; Gecz, Jozef; Kalscheuer, Vera M; Horsthemke, Bernhard; Piton, Amélie; Depienne, Christel
Nature Communications. 13(1)
Academic Journal
Elsa Leitão; Christopher Schröder; Ilaria Parenti; Carine Dalle; Agnès Rastetter; Theresa Kühnel; Alma Kuechler; Sabine Kaya; Bénédicte Gérard; Elise Schaefer; Caroline Nava; Nathalie Drouot; Camille Engel; Juliette Piard; Bénédicte Duban-Bedu; Laurent Villard; Alexander P. A. Stegmann; Els K. Vanhoutte; Job A. J. Verdonschot; Frank J. Kaiser; Frédéric Tran Mau-Them; Marcello Scala; Pasquale Striano; Suzanna G. M. Frints; Emanuela Argilli; Elliott H. Sherr; Fikret Elder; Julien Buratti; Boris Keren; Cyril Mignot; Delphine Héron; Jean-Louis Mandel; Jozef Gecz; Vera M. Kalscheuer; Bernhard Horsthemke; Amélie Piton; Christel Depienne
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Academic Journal
Vera, Gabriella; Sorlin, Arthur; Delplancq, Geoffroy; Lecoquierre, François; Brasseur-Daudruy, Marie; Petit, Florence; Smol, Thomas; Ziegler, Alban; Bonneau, Dominique; Colin, Estelle; Mercier, Sandra; Cogné, Benjamin; Bézieau, Stéphane; Edery, Patrick; Lesca, Gaetan; Chatron, Nicolas; Sabatier, Isabelle; Duban-Bedu, Bénédicte; Colson, Cindy; Piton, Amélie; Durand, Benjamin; Capri, Yline; Perrin, Laurence; Wiesener, Antje; Zweier, Christiane; Maroofian, Reza; Carroll, Christopher J.; Galehdari, Hamid; Mazaheri, Neda; Callewaert, Bert; Giulianno, Fabienne; Zaafrane-Khachnaoui, Khaoula; Buchert-Lo, Rebecca; Haack, Tobias; Magg, Janine; Rieß, Angelika; Blandfort, Maria; Waldmüller, Stephan; Horber, Veronka; Leonardi, Emanuela; Polli, Roberta; Turolla, Licia; Murgia, Alessandra; Frebourg, Thierry; Lebre, Anne Sophie; Nicolas, Gaël; Saugier-Veber, Pascale; Guerrot, Anne-Marie
In European Journal of Medical Genetics October 2020 63(10)
Academic Journal
Smol, Thomas; Thuillier, Caroline; Boudry-Labis, Elise; Dieux-Coeslier, Anne; Duban-Bedu, Bénédicte; Caumes, Roseline; Bouquillon, Sonia; Manouvrier-Hanu, Sylvie; Roche-Lestienne, Catherine; Ghoumid, Jamal
neurogenetics. 21(1):67-72
Academic Journal
Mignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hančárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Laššuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalová, Darina; Putoux, Audrey; Quelin, Chloé; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Štěrbová, Katalin; Vyhnálková, Emílie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Héron, Delphine; Koeleman, Bobby; Møller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, Christel
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):837-849
Academic Journal
Huynh, Minh-Tuan; Boudry-Labis, Elise; Massard, Alfred; Thuillier, Caroline; Delobel, Bruno; Duban-Bedu, Bénédicte; Vincent-Delorme, Catherine
European Journal of Human Genetics. 26(10):1497-1501
Academic Journal
Mignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M.; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hančárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Laššuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalová, Darina; Putoux, Audrey; Quelin, Chloé; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Štěrbová, Katalin; Vyhnálková, Emílie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Héron, Delphine; Koeleman, Bobby; Møller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, Christel
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(8):1897-1898
Academic Journal
Jouret, Guillaume; Heide, Solveig; Sorlin, Arthur; Faivre, Laurence; Chantot-Bastaraud, Sandra; Beneteau, Claire; Denis-Musquer, Marie; Turnpenny, Peter D.; Coutton, Charles; Vieville, Gaelle; Thevenon, Julien; Larson, Austin; Petit, Florence; Boudry, Elise; Smol, Thomas; Delobel, Bruno; Duban-Bedu, Benedicte; Fallerini, Chiara; Mari, Francesca; Lo Rizzo, Caterina; Renieri, Alessandra; Caberg, Jean-Hubert; Denomme-Pichon, Anne-Sophie; Tran Mau-Them, Frederic; Maystadt, Isabelle; Courtin, Thomas; Keren, Boris; Mouthon, Linda; Charles, Perrine; Cuinat, Silvestre; Isidor, Bertrand; Theis, Philippe; Muller, Christian; Kulisic, Marizela; Turkmen, Seval; Stieber, Daniel; Bourgeois, Dominique; Scalais, Emmanuel; Klink, Barbara
Academic Journal
Dubourg, Christèle; Sanlaville, Damien; Doco-Fenzy, Martine; Le Caignec, Cédric; Missirian, Chantal; Jaillard, Sylvie; Schluth-Bolard, Caroline; Landais, Emilie; Boute, Odile; Philip, Nicole; Toutain, Annick; David, Albert; Edery, Patrick; Moncla, Anne; Martin-Coignard, Dominique; Vincent-Delorme, Catherine; Mortemousque, Isabelle; Duban-Bedu, Bénédicte; Drunat, Sèverine; Beri, Mylène; Mosser, Jean; Odent, Sylvie; David, Véronique; Andrieux, Joris
In European Journal of Medical Genetics 2011 54(2):144-151
Academic Journal
Nizon, Mathilde; Andrieux, Joris; Rooryck, Caroline; de Blois, Marie-Christine; Bourel-Ponchel, Emilie; Bourgois, Béatrice; Boute, Odile; David, Albert; Delobel, Bruno; Duban-Bedu, Bénédicte; Giuliano, Fabienne; Goldenberg, Alice; Grotto, Sarah; Héron, Delphine; Karmous-Benailly, Houda; Keren, Boris; Lacombe, Didier; Lapierre, Jean-Michel; Le Caignec, Cédric; Le Galloudec, Eric; Le Merrer, Martine; Le Moing, Anne-Gaëlle; Mathieu-Dramard, Michèle; Nusbaum, Sylvie; Pichon, Olivier; Pinson, Lucile; Raoul, Odile; Rio, Marlène; Romana, Serge; Roubertie, Agnès; Colleaux, Laurence; Turleau, Catherine; Vekemans, Michel; Nabbout, Rima; Malan, Valérie
American Journal Of Medical Genetics - A. Jan 01, 2015 167(1):111-122
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