학술논문
'학술논문'
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1~10
Academic Journal
Hannes, Laurens; Atzori, Marta; Goldenberg, Alice; Argente, Jesús; Attie-Bitach, Tania; Amiel, Jeanne; Attanasio, Catia; Braslavsky, Débora G.; Bruel, Ange-Line; Castanet, Mireille; Dubourg, Christèle; Jacobs, An; Lyonnet, Stanislas; Martinez-Mayer, Julian; Pérez Millán, María Inés; Pezzella, Nunziana; Pelgrims, Elise; Aerden, Mio; Bauters, Marijke; Rochtus, Anne; Scaglia, Paula; Swillen, Ann; Sifrim, Alejandro; Tammaro, Roberta; Mau-Them, Frederic Tran; Odent, Sylvie; Thauvin-Robinet, Christel; Franco, Brunella; Breckpot, Jeroen
In Genetics in Medicine April 2024 26(4)
Academic Journal
Sabbagh, Quentin; Haghshenas, Sadegheh; Piard, Juliette; Trouvé, Chloé; Amiel, Jeanne; Attié-Bitach, Tania; Balci, Tugce; Barat-Houari, Mouna; Belonis, Alyce; Boute, Odile; Brightman, Diana S.; Bruel, Ange-Line; Caraffi, Stefano Giuseppe; Chatron, Nicolas; Collet, Corinne; Dufour, William; Edery, Patrick; Fong, Chin-To; Fusco, Carlo; Gatinois, Vincent; Gouy, Evan; Guerrot, Anne-Marie; Heide, Solveig; Joshi, Aakash; Karp, Natalya; Keren, Boris; Lesieur-Sebellin, Marion; Levy, Jonathan; Levy, Michael A.; Lozano, Claire; Lyonnet, Stanislas; Margot, Henri; Marzin, Pauline; McConkey, Haley; Michaud, Vincent; Nicolas, Gaël; Nizard, Mevyn; Paulet, Alix; Peluso, Francesca; Pernin, Vincent; Perrin, Laurence; Philippe, Christophe; Prasad, Chitra; Prasad, Madhavi; Relator, Raissa; Rio, Marlène; Rondeau, Sophie; Ruault, Valentin; Ruiz-Pallares, Nathalie; Sanchez, Elodie; Shears, Debbie; Siu, Victoria Mok; Sorlin, Arthur; Tedder, Matthew; Tharreau, Mylène; Mau-Them, Frédéric Tran; van der Laan, Liselot; Van Gils, Julien; Verloes, Alain; Whalen, Sandra; Willems, Marjolaine; Yauy, Kévin; Zuntini, Roberta; Kerkhof, Jennifer; Sadikovic, Bekim; Geneviève, David
In Genetics in Medicine January 2024 26(1)
Academic Journal
Calame, Daniel G.; Guo, Tianyu; Wang, Chen; Garrett, Lillian; Jolly, Angad; Dawood, Moez; Kurolap, Alina; Henig, Noa Zunz; Fatih, Jawid M.; Herman, Isabella; Du, Haowei; Mitani, Tadahiro; Becker, Lore; Rathkolb, Birgit; Gerlini, Raffaele; Seisenberger, Claudia; Marschall, Susan; Hunter, Jill V.; Gerard, Amanda; Heidlebaugh, Alexis; Challman, Thomas; Spillmann, Rebecca C.; Jhangiani, Shalini N.; Coban-Akdemir, Zeynep; Lalani, Seema; Liu, Lingxiao; Revah-Politi, Anya; Iglesias, Alejandro; Guzman, Edwin; Baugh, Evan; Boddaert, Nathalie; Rondeau, Sophie; Ormieres, Clothide; Barcia, Giulia; Tan, Queenie K.G.; Thiffault, Isabelle; Pastinen, Tomi; Sheikh, Kazim; Biliciler, Suur; Mei, Davide; Melani, Federico; Shashi, Vandana; Yaron, Yuval; Steele, Mary; Wakeling, Emma; Østergaard, Elsebet; Nazaryan-Petersen, Lusine; Millan, Francisca; Santiago-Sim, Teresa; Thevenon, Julien; Bruel, Ange-Line; Thauvin-Robinet, Christel; Popp, Denny; Platzer, Konrad; Gawlinski, Pawel; Wiszniewski, Wojciech; Marafi, Dana; Pehlivan, Davut; Posey, Jennifer E.; Gibbs, Richard A.; Gailus-Durner, Valerie; Guerrini, Renzo; Fuchs, Helmut; Hrabě de Angelis, Martin; Hölter, Sabine M.; Cheung, Hoi-Hung; Gu, Shen; Lupski, James R.
In The American Journal of Human Genetics 3 August 2023 110(8):1394-1413
Academic Journal
Le Collen, Lauriane; Delemer, Brigitte; Poitou, Christine; Vaxillaire, Martine; Toussaint, Bénédicte; Dechaume, Aurélie; Badreddine, Alaa; Boissel, Mathilde; Derhourhi, Mehdi; Clément, Karine; Petit, Jean M.; Mau-Them, Frédéric Tran; Bruel, Ange-Line; Thauvin-Robinet, Christel; Saveanu, Alexandru; Cherifi, Blandine Gatta; Le Beyec-Le Bihan, Johanne; Froguel, Philippe; Bonnefond, Amélie
In Genetics in Medicine July 2023 25(7)
Academic Journal
Denommé-Pichon, Anne-Sophie; Collins, Stephan C.; Bruel, Ange-Line; Mikhaleva, Anna; Wagner, Christel; Vancollie, Valerie E.; Thomas, Quentin; Chevarin, Martin; Weber, Mathys; Prada, Carlos E.; Overs, Alexis; Palomares-Bralo, María; Santos-Simarro, Fernando; Pacio-Míguez, Marta; Busa, Tiffany; Legius, Eric; Bacino, Carlos A.; Rosenfeld, Jill A.; Le Guyader, Gwenaël; Egloff, Matthieu; Le Guillou, Xavier; Mencarelli, Maria Antonietta; Renieri, Alessandra; Grosso, Salvatore; Levy, Jonathan; Dozières, Blandine; Desguerre, Isabelle; Vitobello, Antonio; Duffourd, Yannis; Lelliott, Christopher J.; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence; Yalcin, Binnaz
In Genetics in Medicine July 2023 25(7)
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
Thomas, Quentin; Gautier, Thierry; Marafi, Dana; Besnard, Thomas; Willems, Marjolaine; Moutton, Sébastien; Isidor, Bertand; Cogné, Benjamin; Conrad, Solène; Tenconi, Romano; Iascone, Maria; Sorlin, Arthur; Masurel, Alice; Dabir, Tabib; Jackson, Adam; Banka, Siddharth; Delanne, Julian; Lupski, James R.; Saadi, Nebal Waill; Alkuraya, Fowzan S.; Zahrani, Fatema Al; Agrawal, Pankaj B. ; England, Eleina ; Madden, Jill A. ; Posey, Jennifer E. ; Burglen, Lydie ; Rodriguez, Diana ; Chevarin, Martin; Nguyen, Sylvie; Mau-Them, Frédéric Tran; Duffourd, Yannis; Garret, Philippine; Bruel, Ange-Line; Callier, Patrick; Marle, Nathalie; Denomme-Pichon, Anne-Sophie; Duplomb, Laurence; Philippe, Christophe; Thauvin-Robinet, Christel ; Govin, Jérôme; Faivre, Laurence; Vitobello, Antonio
In Genetics in Medicine October 2021 23(10):1901-1911
Academic Journal
Bourchany, Aurélie; Thauvin-Robinet, Christel; Lehalle, Daphné; Bruel, Ange-Line; Masurel-Paulet, Alice; Jean, Nolwenn; Nambot, Sophie; Willems, Marjorie; Lambert, Laetitia; El Chehadeh-Djebbar, Salima; Schaefer, Elise; Jaquette, Aurélia; St-Onge, Judith; Poe, Charlotte; Jouan, Thibaud; Chevarin, Martin; Callier, Patrick; Mosca-Boidron, Anne-Laure; Laurent, Nicole; Lefebvre, Mathilde; Huet, Frédéric; Houcinat, Nada; Moutton, Sébastien; Philippe, Christophe; Tran-Mau-Them, Frédéric; Vitobello, Antonio; Kuentz, Paul; Duffourd, Yannis; Rivière, Jean-Baptiste; Thevenon, Julien; Faivre, Laurence
In European Journal of Medical Genetics November 2017 60(11):595-604
Academic Journal
Thomas, Quentin; Motta, Marialetizia; Gautier, Thierry; Zaki, Maha S.; Ciolfi, Andrea; Paccaud, Julien; Girodon, François; Boespflug-Tanguy, Odile; Besnard, Thomas; Kerkhof, Jennifer; McConkey, Haley; Masson, Aymeric; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Trochu, Eva; Vignard, Virginie; El It, Fatima; Rodan, Lance H.; Alkhateeb, Mohammad Ayman; Jamra, Rami Abou; Duplomb, Laurence; Tisserant, Emilie; Duffourd, Yannis; Bruel, Ange-Line; Jackson, Adam; Banka, Siddharth; McEntagart, Meriel; Saggar, Anand; Gleeson, Joseph G.; Sievert, David; Bae, Hyunwoo; Lee, Beom Hee; Kwon, Kisang; Seo, Go Hun; Lee, Hane; Saeed, Anjum; Anjum, Nadeem; Cheema, Huma; Alawbathani, Salem; Khan, Imran; Pinto-Basto, Jorge; Teoh, Joyce; Wong, Jasmine; Sahari, Umar Bin Mohamad; Houlden, Henry; Zhelcheska, Kristina; Pannetier, Melanie; Awad, Mona A.; Lesieur-Sebellin, Marion; Barcia, Giulia; Amiel, Jeanne; Delanne, Julian; Philippe, Christophe; Faivre, Laurence; Odent, Sylvie; Bertoli-Avella, Aida; Thauvin, Christel; Sadikovic, Bekim; Reversade, Bruno; Maroofian, Reza; Govin, Jérôme; Tartaglia, Marco; Vitobello, Antonio
In The American Journal of Human Genetics 6 October 2022 109(10):1909-1922
Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders.
Academic Journal
Ruault, Valentin; Burger, Pauline; Gradels‐Hauguel, Johanna; Ruiz, Nathalie; Jamra, Rami Abou; Afenjar, Alexandra; Alembik, Yves; Alessandri, Jean‐Luc; Arpin, Stéphanie; Barcia, Giulia; Bendová, Šárka; Bruel, Ange‐Line; Charles, Perrine; Chatron, Nicolas; Chopra, Maya; Conrad, Solène; Daire, Valérie Cormier; Cospain, Auriane; Coubes, Christine; Coursimault, Juliette
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