학술논문
'학술논문'
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1~10
Academic Journal
Canaud, Guillaume; Lopez Gutierrez, Juan Carlos; Irvine, Alan D.; Vabres, Pierre; Hansford, Jordan R.; Ankrah, Nii; Branle, Fabrice; Papadimitriou, Athanasia; Ridolfi, Antonia; O’Connell, Paul; Turner, Stuart; Adams, Denise M.
In Genetics in Medicine December 2023 25(12)
Academic Journal
Orly, Jordan; Bisdorff, Annouk; Fraissenon, Antoine; Joly, Aline; Boulouis, Grégoire; Guibaud, Laurent; Tavernier, Elsa; Mallet, Stéphanie; Marcelin, Clément; Miquel, Juliette; Martin, Ludovic; Droitcourt, Catherine; Gusdorf, Laurence; Abasq, Claire; Dadban, Ali; Chiaverini, Christine; Vabres, Pierre; Herbreteau, Denis; Boccara, Olivia; Wassef, Michel; Maruani, Annabel
In European Journal of Radiology August 2023 165
Academic Journal
Abbott, Kristin M.; Banka, Siddharth; de Boer, Elke; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Gilissen, Christian; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jackson, Adam; Kerstjens, Mieke; Kleefstra, Tjitske; Martín, Estrella López; Macek, Milan, Jr.; Matalonga, Leslie; Maystadt, Isabelle; Morleo, Manuela; Nigro, Vicenzo; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca C.; Renieri, Alessandra; Riess, Olaf; Rooryck, Caroline; Ryba, Lukas; Agathe, Jean-Madeleine de Sainte; Santen, Gijs W.E.; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Trimouille, Aurélien; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Zguro, Kristina; Boer, Elke de; Cohen, Enzo; Danis, Daniel; Gao, Fei; Horvath, Rita; Johari, Mridul; Johanson, Lennart; Li, Shuang; Morsy, Heba; Nelson, Isabelle; Paramonov, Ida; te Paske, Iris B.A.W.; Robinson, Peter; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; van der Velde, Joeri K.; Vandrovcova, Jana; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; ‘t Hoen, Peter A.C.; Vissers, Lisenka E.L.M.; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Alexander, Elizabeth; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Atalaia, Antonio; Stojkovic, Tanya; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Efthymiou, Stephanie; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Varavallo, Alessandra; Banfi, Sandro; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; Lacombe, Didier; Trimouille, Aurelien; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Hackman, Peter; Udd, Bjarne; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Osorio, Andrés Nascimento; Depienne, Christel; Roos, Andreas; Cordts, Isabell; Deschauer, Marcus; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Başak, Ayşe Nazlı; Claeys, Kristl; Boztug, Kaan; Haimel, Matthias; W.E, Gijs; Ruivenkamp, Claudia A.L.; Natera de Benito, Daniel; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Radio, Francesca Clementina; Balicza, Peter; Molnar, Maria Judit; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Schröck, Evelin; Rump, Andreas; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Chinnery, Patrick F.; Ratnaike, Thiloka; Schon, Katherine; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; May, Patrick; Beeson, David; Cossins, Judith; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Afenjar, Alexandra; Goldenberg, Alice; Masurel, Alice; Phan, Alice; Dieux-Coeslier, Anne; Fargeot, Anne; Guerrot, Anne-Marie; Toutain, Annick; Molin, Arnaud; Sorlin, Arthur; Putoux, Audrey; Jouret, Béatrice; Laudier, Béatrice; Demeer, Bénédicte; Doray, Bérénice; Bonniaud, Bertille; Isidor, Bertrand; Gilbert-Dussardier, Brigitte; Leheup, Bruno; Reversade, Bruno; Paul, Carle; Vincent-Delorme, Catherine; Neiva, Cecilia; Poirsier, Céline; Quélin, Chloé; Chiaverini, Christine; Coubes, Christine; Francannet, Christine; Colson, Cindy; Desplantes, Claire; Wells, Constance; Goizet, Cyril; Sanlaville, Damien; Amram, Daniel; Lehalle, Daphné; Geneviève, David; Gaillard, Dominique; Zivi, Einat; Sarrazin, Elisabeth; Steichen, Elisabeth; Schaefer, Élise; Lacaze, Elodie; Jacquemin, Emmanuel; Bongers, Ernie; Kilic, Esra; Colin, Estelle; Giuliano, Fabienne; Prieur, Fabienne; Laffargue, Fanny; Morice-Picard, Fanny; Petit, Florence; Cartault, François; Feillet, François; Baujat, Geneviève; Morin, Gilles; Diene, Gwenaëlle; Journel, Hubert; Perthus, Isabelle; Lespinasse, James; Alessandri, Jean-Luc; Amiel, Jeanne; Martinovic, Jelena; Delanne, Julian; Albuisson, Juliette; Lambert, Laëtitia; Perrin, Laurence; Ousager, Lilian Bomme; Van Maldergem, Lionel; Pinson, Lucile; Ruaud, Lyse; Samimi, Mahtab; Bournez, Marie; Bonnet-Dupeyron, Marie Noëlle; Vincent, Marie; Jacquemont, Marie-Line; Cordier-Alex, Marie-Pierre; Gérard-Blanluet, Marion; Willems, Marjolaine; Spodenkiewicz, Marta; Doco-Fenzy, Martine; Rossi, Massimiliano; Renaud, Mathilde; Fradin, Mélanie; Mathieu, Michèle; Holder-Espinasse, Muriel H.; Houcinat, Nada; Hanna, Nadine; Leperrier, Nathalie; Chassaing, Nicolas; Philip, Nicole; Boute, Odile; Van Kien, Philippe Khau; Parent, Philippe; Bitoun, Pierre; Sarda, Pierre; Vabres, Pierre; Jouk, Pierre-Simon; Touraine, Renaud; El Chehadeh, Salima; Whalen, Sandra; Marlin, Sandrine; Passemard, Sandrine; Grotto, Sarah; Bellanger, Séverine Audebert; Blesson, Sophie; Nambot, Sophie; Naudion, Sophie; Lyonnet, Stanislas; Odent, Sylvie; Attie-Bitach, Tania; Busa, Tiffany; Drouin-Garraud, Valérie; Layet, Valérie; Bizaoui, Varoona; Cusin, Véronica; Capri, Yline; Alembik, Yves; Jean-Marçais, Nolwenn; López-Martín, Estrella; Macek, Milan; Mencarelli, Maria Antonietta; Moutton, Sébastien; Pfundt, Rolph; Safraou, Hana; Thauvin-Robinet, Christel; Thevenon, Julien; Tran Mau-Them, Frédéric; de Vries, Bert B.A.; Willemsen, Marjolein H.; Philippe, Christophe
In Genetics in Medicine April 2023 25(4)
Academic Journal
Di Rocco, Federico; Licci, Maria Lucia; Garde, Aurore; Mottolese, Carmine; Thauvin-Robinet, Christel; Chevarin, Martin; Guibaud, Laurent; Vabres, Pierre; Kuentz, Paul; Faivre, Laurence
In European Journal of Medical Genetics February 2023 66(2)
Academic Journal
Agopiantz, Mikaël; Sorlin, Arthur; Vabres, Pierre; Leheup, Bruno; Carmignac, Virginie; Malaplate-Armand, Catherine; Diligent, Catherine; Bonnet, Céline; Gauchotte, Guillaume
In Journal of Gynecology Obstetrics and Human Reproduction November 2021 50(9)
Academic Journal
Hadouiri, Nawale; Darmency, Veronique; Guibaud, Laurent; Arzimanoglou, Alexis; Sorlin, Arthur; Carmignac, Virginie; Rivière, Jean-Baptiste; Huet, Frédéric; Luu, Maxime; Bardou, Marc; Thauvin-Robinet, Christel; Vabres, Pierre; Faivre, Laurence
In European Journal of Medical Genetics November 2020 63(11)
Academic Journal
Severino-Freire, Maella; Maza, Aude; Kuentz, Paul; Duffourd, Yannis; Faivre, Laurence; Brazet, Edith; Chassaing, Nicolas; Mery-Lemarche, Eliane; Vabres, Pierre; Mazereeuw-Hautier, Juliette
In European Journal of Medical Genetics April 2019 62(4):270-272
Academic Journal
Hébert, Vivien; Boulard, Claire; Houivet, Estelle; Duvert Lehembre, Sophie; Borradori, Luca; Della Torre, Rocco; Feliciani, Claudio; Fania, Luca; Zambruno, Giovanna; Camaioni, Diana B.; Didona, Biago; Marinovic, Branka; Schmidt, Enno; Schumacher, Nina; Hünefeld, Christian; Schanz, Stefan; Kern, Johannes Steffen; Hofmann, Silke; Bouyeure, Anne Charlotte; Picard-Dahan, Catherine; Prost-Squarcioni, Catherine; Caux, Frederic; Alexandre, Marina; Ingen-Housz-Oro, Saskia; Bagot, Martine; Tancrede-Bohin, Emmanuelle; Bouaziz, Jean David; Franck, Nathalie; Vabres, Pierre; Labeille, Bruno; Richard, Marie Aleth; Delaporte, Emmanuel; Dupuy, Alain; D’Incan, Michel; Quereux, Gaelle; Skowro, François; Paul, Carle; Livideanu, Cristina Bulai; Beylot-Barry, Marie; Doutre, Marie Sylvie; Avenel-Audran, Martine; Bedane, Christophe; Bernard, Philippe; Machet, Laurent; Maillard, Hervé; Jullien, Denis; Debarbieux, Sebastien; Sassolas, Bruno; Misery, Laurent; Abasq, Claire; Dereure, Olivier; Lagoutte, Philippe; Ferranti, Vincent; Werth, Victoria P.; Murrell, Dedee F.; Hertl, Michael; Benichou, Jacques; Joly, Pascal
In Journal of Investigative Dermatology January 2019 139(1):31-37
Academic Journal
Kuentz, Paul; Engel, Camille; Laeng, Mathieu; Chevarin, Martin; Aubert, Hélène; Mercier, Sandra; Isidor, Bertrand; Phan, Alice; Boccara, Olivia; Bessis, Didier; Morice-Picard, Fanny; Ott, Hagen; Guérot, Anne-Marie; Mazereeuw-Hautier, Juliette; Maruani, Annabel; Puzenat, Eve; Thauvin-Robinet, Christel; Faivre, Laurence; Vabres, Pierre
In Morphologie December 2023 107(359) Supplement
Academic Journal
Joly, Pascal; Maho-Vaillant, Maud; Prost-Squarcioni, Catherine; Hebert, Vivien; Houivet, Estelle; Calbo, Sébastien; Caillot, Frédérique; Golinski, Marie Laure; Labeille, Bruno; Picard-Dahan, Catherine; Paul, Carle; Richard, Marie-Aleth; Bouaziz, Jean David; Duvert-Lehembre, Sophie; Bernard, Philippe; Caux, Frederic; Alexandre, Marina; Ingen-Housz-Oro, Saskia; Vabres, Pierre; Delaporte, Emmanuel; Quereux, Gaelle; Dupuy, Alain; Debarbieux, Sebastien; Avenel-Audran, Martine; D'Incan, Michel; Bedane, Christophe; Bénéton, Nathalie; Jullien, Denis; Dupin, Nicolas; Misery, Laurent; Machet, Laurent; Beylot-Barry, Marie; Dereure, Olivier; Sassolas, Bruno; Vermeulin, Thomas; Benichou, Jacques; Musette, Philippe
In The Lancet 20-26 May 2017 389(10083):2031-2040
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