학술논문
'학술논문'
에서 검색결과 331건 | 목록
10~20
Academic Journal
Sorrentino, Ugo; Boesch, Sylvia; Doummar, Diane; Ravelli, Claudia; Serranova, Tereza; Indelicato, Elisabetta; Winkelmann, Juliane; Burglen, Lydie; Jech, Robert; Zech, Michael
Academic Journal
Gerasimenko, Anna; Mignot, Cyril; Naggara, Olivier; Coulet, Florence; Ekram, Samar; Heide, Solveig; Sorato, Clarisse; Mazowiecki, Maxime; Perrin, Laurence; Colas, Chrystelle; Cusin, Veronica; Caux, Frederic; Dardenne, Antoine; El Chehadeh, Salima; Verloes, Alain; Maurey, Helene; Afenjar, Alexandra; Petit, Florence; Barete, Stephane; Boespflug-Tanguy, Odile; Bourrat, Emmanuelle; Capri, Yline; Ciorna, Viorica; Deb, Wallid; Doummar, Diane; Perrier, Alexandre; Guedon, Alexis; Houdart, Emmanuel; Isidor, Bertrand; Jacquemont, Marie-Line; Buffet, Camille; Mercier, Sandra; Passemard, Sandrine; Riquet, Audrey; Ruaud, Lyse; Schaefer, Elise; Heron, Delphine; Bisdorff, Annouk; Benusiglio, Patrick R.
Academic Journal
Loussouarn, Anna; Doummar, Diane; Beaugendre, Yara; Bienvenu, Thierry; Charles, Perrine; Depienne, Christel; Dorison, Nathalie; Heide, Solveig; Héron, Delphine; Ioos, Christine; Keren, Boris; Métreau, Julia; Mochel, Fanny; Moutard, Marie-Laure; Ravelli, Claudia; Apartis, Emmanuelle; Mignot, Cyril
In European Journal of Paediatric Neurology September 2021 34:62-66
Academic Journal
Bruel, Ange-Line; Franco, Brunella; Duffourd, Yannis; Thevenon, Julien; Jego, Laurence; Lopez, Estelle; Deleuze, Jean-François; Doummar, Diane; Giles, Rachel H; Johnson, Colin A; Huynen, Martijn A; Chevrier, Véronique; Burglen, Lydie; Morleo, Manuela; Desguerres, Isabelle; Pierquin, Geneviève; Doray, Bérénice; Gilbert-Dussardier, Brigitte; Reversade, Bruno; Steichen-Gersdorf, Elisabeth; Baumann, Clarisse; Panigrahi, Inusha; Fargeot-Espaliat, Anne; Dieux, Anne; David, Albert; Goldenberg, Alice; Bongers, Ernie; Gaillard, Dominique; Argente, Jesús; Aral, Bernard; Gigot, Nadège; St-Onge, Judith; Birnbaum, Daniel; Phadke, Shubha R; Cormier-Daire, Valérie; Eguether, Thibaut; Pazour, Gregory J; Herranz-Pérez, Vicente; Goldstein, Jaclyn S; Pasquier, Laurent; Loget, Philippe; Saunier, Sophie; Mégarbané, André; Rosnet, Olivier; Leroux, Michel R; Wallingford, John B; Blacque, Oliver E; Nachury, Maxence V; Attie-Bitach, Tania; Rivière, Jean-Baptiste; Faivre, Laurence; Thauvin-Robinet, Christel
Journal of Medical Genetics. 54(6)
Academic Journal
Domínguez Carral, Jana; Reinhard, Carola; Ebrahimi-Fakhari, Darius; Dorison, Nathalie; Galosi, Serena; Garone, Giacomo; Malenica, Masa; Ravelli, Claudia; Serdaroglu, Esra; van de Pol, Laura A.; Koy, Anne; Leuzzi, Vincenzo; Roubertie, Agathe; Lin, Jean-Pierre; Doummar, Diane; Cif, Laura; Ortigoza-Escobar, Juan Darío
Frontiers in Neurology; 2024, p1-11, 11p
Academic Journal
Uggenti, Carolina; Lepelley, Alice; Depp, Marine; Badrock, Andrew P.; Rodero, Mathieu P.; El-Daher, Marie-Thérèse; Rice, Gillian I.; Dhir, Somdutta; Wheeler, Ann P.; Dhir, Ashish; Albawardi, Waad; Frémond, Marie-Louise; Seabra, Luis; Doig, Jennifer; Blair, Natalie; Martin-Niclos, Maria José; Della Mina, Erika; Rubio-Roldán, Alejandro; García-Pérez, Jose L.; Sproul, Duncan; Rehwinkel, Jan; Hertzog, Jonny; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-François; Baruteau, Julien; Brochard, Karine; Buckley, Jonathan; Cavallera, Vanessa; Cereda, Cristina; De Waele, Liesbeth M. H.; Dobbie, Angus; Doummar, Diane; Elmslie, Frances; Koch-Hogrebe, Margarete; Kumar, Ram; Lamb, Kate; Livingston, John H.; Majumdar, Anirban; Lorenço, Charles Marques; Orcesi, Simona; Peudenier, Sylviane; Rostasy, Kevin; Salmon, Caroline A.; Scott, Christiaan; Tonduti, Davide; Touati, Guy; Valente, Marialuisa; van der Linden, Jr., Hélio; Van Esch, Hilde; Vermelle, Marie; Webb, Kate; Jackson, Andrew P.; Reijns, Martin A. M.; Gilbert, Nick; Crow, Yanick J.
Nature Genetics. 52(12):1364-1372
Academic Journal
Doummar, Diane; Dentel, Christel; Lyautey, Romane; Metreau, Julia; Keren, Boris; Drouot, Nathalie; Malherbe, Ludivine; Bouilleret, Viviane; Courraud, Jérémie; Valenti-Hirsch, Maria Paola; Minotti, Lorella; Dozieres-Puyravel, Blandine; Bär, Séverine; Scholly, Julia; Schaefer, Elise; Nava, Caroline; Wirth, Thomas; Nasser, Hala; de Salins, Marie; de Saint Martin, Anne; Warde, Marie Thérèse Abi; Kahane, Philippe; Hirsch, Edouard; Anheim, Mathieu; Friant, Sylvie; Chelly, Jamel; Mignot, Cyril; Rudolf, Gabrielle
European Journal of Human Genetics. 28(10):1403-1413
Academic Journal
Jin, Sheng Chih; Lewis, Sara A.; Bakhtiari, Somayeh; Zeng, Xue; Sierant, Michael C.; Shetty, Sheetal; Nordlie, Sandra M.; Elie, Aureliane; Corbett, Mark A.; Norton, Bethany Y.; van Eyk, Clare L.; Haider, Shozeb; Guida, Brandon S.; Magee, Helen; Liu, James; Pastore, Stephen; Vincent, John B.; Brunstrom-Hernandez, Janice; Papavasileiou, Antigone; Fahey, Michael C.; Berry, Jesia G.; Harper, Kelly; Zhou, Chongchen; Zhang, Junhui; Li, Boyang; Zhao, Hongyu; Heim, Jennifer; Webber, Dani L.; Frank, Mahalia S. B.; Xia, Lei; Xu, Yiran; Zhu, Dengna; Zhang, Bohao; Sheth, Amar H.; Knight, James R.; Castaldi, Christopher; Tikhonova, Irina R.; López-Giráldez, Francesc; Keren, Boris; Whalen, Sandra; Buratti, Julien; Doummar, Diane; Cho, Megan; Retterer, Kyle; Millan, Francisca; Wang, Yangong; Waugh, Jeff L.; Rodan, Lance; Cohen, Julie S.; Fatemi, Ali; Lin, Angela E.; Phillips, John P.; Feyma, Timothy; MacLennan, Suzanna C.; Vaughan, Spencer; Crompton, Kylie E.; Reid, Susan M.; Reddihough, Dinah S.; Shang, Qing; Gao, Chao; Novak, Iona; Badawi, Nadia; Wilson, Yana A.; McIntyre, Sarah J.; Mane, Shrikant M.; Wang, Xiaoyang; Amor, David J.; Zarnescu, Daniela C.; Lu, Qiongshi; Xing, Qinghe; Zhu, Changlian; Bilguvar, Kaya; Padilla-Lopez, Sergio; Lifton, Richard P.; Gecz, Jozef; MacLennan, Alastair H.; Kruer, Michael C.
Nature Genetics. 52(10):1046-1056
Depienne, Christel; Nava, Caroline; Keren, Boris; Heide, Solveig; Rastetter, Agnès; Passemard, Sandrine; Chantot-Bastaraud, Sandra; Moutard, Marie Laure; Agrawal, Pankaj B.; VanNoy, Grace; Stoler, Joan M.; Amor, David J; Billette de Villemeur, Thierry; Doummar, Diane; Alby, Caroline; Cormier-Daire, Valérie; Garel, Catherine; Marzin, Pauline; Scheidecker, Sophie; de Saint-Martin, Anne; Hirsch, Edouard; Korff, Christian; Bottani, Armand; Faivre, Laurence; Verloes, Alain; Orzechowski, Christine; Burglen, Lydie; Leheup, Bruno; Roume, Joelle; Andrieux, Joris; Sheth, Frenny; Datar, Chaitanya; Parker, Michael J.; Pasquier, Laurent; Odent, Sylvie; Naudion, Sophie; Delrue, Marie Ange; Le Caignec, Cédric; Vincent, Marie; Isidor, Bertrand; Renaldo, Florence; Stewart, Fiona; Toutain, Annick; Koehler, Udo; Häckl, Birgit; von Stülpnagel, Celina; Kluger, Gerhard; Møller, Rikke S.; Jonson, Tord; Soller, Maria
Human Genetics. 136(4):463-479
Academic Journal
Sabouraud, Pascal; Riquet, Audrey; Spitz, Marie-Aude; Deiva, Kumaran; Nevsimalova, Sona; Mignot, Cyril; Lesca, Gaëtan; Bednarek, Nathalie; Doummar, Diane; Pietrement, Christine; Laugel, Vincent
In European Journal of Paediatric Neurology May 2019 23(3):448-455
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