학술논문
'학술논문'
에서 검색결과 36건 | 목록
1~10
Academic Journal
Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Shvedunova, Maria; Petersen, Andrea K.; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, André; Savatt, Juliann M.; Mulligan, Meghan R.; Bicknell, Louise S.; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie S.; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Baris Feldman, Hagit; McKee, Shane; Krapels, Ingrid P.C.; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; McConnell, Vivienne; Chassevent, Anna; Barañano, Kristin W.; Shashi, Vandana; Sullivan, Jennifer A.; Peron, Angela; Iascone, Maria; Canevini, Maria P.; Friedman, Jennifer; Reyes, Iris A.; Kierstein, Janell; Shen, Joseph J.; Ahmed, Faria N.; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G.; Rousseau, Justine; Myers, Kenneth A.; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M.
In The American Journal of Human Genetics 11 July 2024 111(7):1330-1351
Academic Journal
Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal; Cabrol, Christelle; Cilio, Maria; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette
European Journal of Human Genetics. 31(9)
Academic Journal
Harion, Madeleine; Qebibo, Leila; Riquet, Audrey; Rougeot, Christelle; Afenjar, Alexandra; Garel, Catherine; Louha, Malek; Lacaze, Emmanuelle; Audic-Gérard, Frédérique; Barth, Magali; Berquin, Patrick; Bonneau, Dominique; Bourdain, Frédéric; Busa, Tiffany; Colin, Estelle; Cuisset, Jean-Marie; Portes, Vincent Des; Dorison, Nathalie; Francannet, Christine; Héron, Bénédicte
Journal of Medical Genetics; Jun2023, Vol. 60 Issue 6, p578-586, 9p
Academic Journal
Harion, Madeleine; Qebibo, Leila; Riquet, Audrey; Rougeot, Christelle; Afenjar, Alexandra; Garel, Catherine; Louha, Malek; Lacaze, Emmanuelle; Audic-Gerard, Frederique; Barth, Magali; Berquin, Patrick; Bonneau, Dominique; Bourdain, Frederic; Busa, Tiffany; Colin, Estelle; Cuisset, Jean-Marie; Des Portes, Vincent; Dorison, Nathalie; Francannet, Christine; Heron, Benedicte; Laroche, Cecile; Lebrun, Marine; Metreau, Julia; Odent, Sylvie; Pasquier, Laurent; Trujillo, Yaumara Perdomo; Perrin, Laurine; Pinson, Lucile; Rivier, Francois; Sigaudy, Sabine; Thauvin-Robinet, Christel; Louvier, Ulrike Walther; Labayle, Olivier; Rodriguez, Diana; Valence, Stephanie; Burglen, Lydie
Academic Journal
Di Meglio, Chloé; Lesca, Gaetan; Villeneuve, Nathalie; Lacoste, Caroline; Abidi, Affef; Cacciagli, Pierre; Altuzarra, Cécilia; Roubertie, Agathe; Afenjar, Alexandra; Renaldo-Robin, Florence; Isidor, Bertrand; Gautier, Agnes; Husson, Marie; Cances, Claude; Metreau, Julia; Laroche, Cécile; Chouchane, Mondher; Ville, Dorothée; Marignier, Stéphanie; Rougeot, Christelle; Lebrun, Marine; de Saint Martin, Anne; Perez, Alexandra; Riquet, Audrey; Badens, Catherine; Missirian, Chantal; Philip, Nicole; Chabrol, Brigitte; Villard, Laurent; Milh, Mathieu
Epilepsia. Dec 01, 2015 56(12):1931-1940
Academic Journal
Valence, Stéphanie; Cochet, Emmanuelle; Rougeot, Christelle; Garel, Catherine; Chantot-Bastaraud, Sandra; Lainey, Elodie; Afenjar, Alexandra; Barthez, Marie-Anne; Bednarek, Nathalie; Doummar, Diane; Faivre, Laurence; Goizet, Cyril; Haye, Damien; Heron, Bénédicte; Kemlin, Isabelle; Lacombe, Didier; Milh, Mathieu; Moutard, Marie-Laure; Riant, Florence; Robin, Stéphanie; Roubertie, Agathe; Sarda, Pierre; Toutain, Annick; Villard, Laurent; Ville, Dorothée; Billette de Villemeur, Thierry; Rodriguez, Diana; Burglen, Lydie
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(3):553-563
Academic Journal
Traschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A. Nazli; Hanagasi, Hasmet; Kurul, Semra Hiz; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; van de Warrenburg, Bart; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; Koenig, Michel; Santorelli, Filippo M.; Anheim, Mathieu; Munhoz, Renato P.; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J.; Puccio, Helene; Synofzik, Matthis
Academic Journal
Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clemantine; Rabionet, Raquel; Blanco-Sanchez, Bernardo; Yang, Sandra; Reijnders, Margot R. F.; van Essen, Antonie J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coeslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M.; Heeley, Jennifer; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Walker, Melissa A.; Keegan, Catherine E.; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S.; Earl, Dawn L.; Siu, Victoria M.; Reesor, Emma; Yao, Tony; Hegele, Robert A.; Vaske, Olena M.; Rego, Shannon; Shapiro, Kevin A.; Wong, Brian; Gambello, Michael J.; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O'Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y.; Christodoulou, John; White, Susan M.; Slavotinek, Anne; Barbouth, Deborah; Swols, Dayna Morel; Parisot, Melanie; Bole-Feysot, Christine; Nitschke, Patrick; Pingault, Veronique; Munnich, Arnold; Cho, Megan T.; Cormier-Daire, Valerie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T.; Undiagnosed Dis Network; Care4Rare Canada Consortium
Academic Journal
Engel, Camille; Valence, Stephanie; Delplancq, Geoffroy; Maroofian, Reza; Kuentz, Paul; Cabrol, Christelle; Brischoux-Boucher, Elise; Salpietro, Vincenzo; Villard, Laurent; Doco-Fenzy, Martine; Odent, Sylvie; Morris-Rosendahl, Deborah; Zaki, Maha; Gerard, Marion; Brusco, Alfredo; Putoux, Audrey; Poulton, Cathryn; Coubes, Christine; Mignot, Cyril; Bubshait, Dalal; Kraus, Dror; Alkuraya, Fowzan; Scheffer, Ingrid; Engels, Hartmut; Wagner, Johanna; Gleeson, Joseph; Kutsche, Kerstin; Massingham, Laure; Pasquier, Laurent; Penney, Lynette; Cilio, Maria Roberta; Cornet, Marie-Coralie; Di Giacomo, Marilena Carmela; Rio, Marlene; Wagner, Matias; Striano, Pasquale; Straussberg, Rachel; Kaiyrzhanov, Rauan; Srivastava, Siddarth; Baglioni, Valentina; Vitobello, Antonio; Rougeot, Christelle; Valente, Enza Maria; Houlden, Henry; Goffeney, Joanna; Bruel, Ange-Line; Schneider, Amy; Vanmaldergem, Lionel; Burglen, Lydie; Piard, Juliette
Academic Journal
Coutelier, Marie; Burglen, Lydie; Mundwiller, Emeline; Abada-Bendib, Myriam; Rodriguez, Diana; Chantot-Bastaraud, Sandra; Rougeot, Christelle; Cournelle, Marie-Anne; Milh, Mathieu; Toutain, Annick; Bacq, Delphine; Meyer, Vincent; Afenjar, Alexandra; Deleuze, Jean-François; Brice, Alexis; Héron, Delphine; Stevanin, Giovanni; Durr, Alexandra
Neurology; 4/28/2015, Vol. 84 Issue 17, p1751-1759, 9p
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