학술논문
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'학술논문'
에서 검색결과 82건 | 목록
1~20
Academic Journal
Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D’Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A. Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J.; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L.; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S.; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A.; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A.; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A.; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P.; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M.; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O’Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel
Nature Genetics. :1-15
Academic Journal
Husson, Thomas; Lecoquierre, François; Nicolas, Gaël; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Séverine; Badens, Catherine; Bilan, Frédéric; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noëlle; Brischoux-Boucher, Elise; Bonnet, Céline; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogné, Benjamin; Colin, Estelle; Cormier-Daire, Valérie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-François; Demurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christèle; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Mélanie; Garde, Aurore; Geneviève, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Inès; Héron, Delphine; Isidor, Bertrand; Lacombe, Didier; Le Guillou Horn, Xavier; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoë; Lehalle, Daphné; Lesca, Gaëtan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godeliève; Jean-Marçais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amélie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quélin, Chloé; Quemener-Redon, Sylvia; Rama, Mélanie; Rio, Marlène; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic; Trimouille, Aurélien; van Gils, Julien; Vanlerberghe, Clémence; Vantalon, Valérie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille
Eur J Hum Genet
Academic Journal
Racine, Caroline; Denommé-Pichon, Anne-Sophie; Engel, Camille; Tran Mau-Them, Frederic; Bruel, Ange-Line; Vitobello, Antonio; Safraou, Hana; Sorlin, Arthur; Nambot, Sophie; Delanne, Julian; Garde, Aurore; Colin, Estelle; Moutton, Sébastien; Thevenon, Julien; Jean-Marçais, Nolwenn; Willems, Marjolaine; Geneviève, David; Pinson, Lucile; Perrin, Laurence; Laffargue, Fanny; Lespinasse, James; Lacaze, Elodie; Molin, Arnaud; Gerard, Marion; Lambert, Laetitia; Benigni, Charlotte; Patat, Olivier; Bourgeois, Valentin; Poe, Charlotte; Chevarin, Martin; Couturier, Victor; Garret, Philippine; Philippe, Christophe; Duffourd, Yannis; Faivre, Laurence; Thauvin-Robinet, Christel; Orphanomix Physician's Group
Journal of Medical Genetics. 61:36-46
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)
Book
Françoise Robert; Aline Chassagne; Aurore Pélissier; Christine Peyron; Sophie Béjean; Élodie Cretin; Élodie Gautier; Dominique Salvi; Sarah Kidri; Aurélie Godard; Christel Thauvin-Robinet; Alice Masurel; Daphné Lehalle; Nolwenn Jean-Marçais; Julien Thevenon; Gaëtan Lesca; Audrey Putoux; Marie-Pierre Cordier; Sophie Dupuis-Girod; Marianne Till; Yannis Duffourd; Jean-Baptiste Rivière; Lorraine Joly; Christine Juif; Olivier Putois; Pierre Ancet; Anne-Sophie Lapointe; Paulette Morin; Patrick Edery; Massimiliano Rossi; Damien Sanlaville; Laurence Faivre
Maladies rares ISBN: 9782749277707
Book
Robert, Françoise; Chassagne, Aline; Pélissier, Aurore; Peyron, Christine; Béjean, Sophie; Crétin, Elodie; Gautier, Elodie; Salvi, Dominique; Kidri, Sarah; Godard, Aurélie; Thauvin-Robinet, Christel; Masurel, Alice; Lehalle, Daphné; Jean-Marçais, Nolwenn; Thevenon, Julien; Lesca, Gaétan; Putoux, Audrey; Cordier, Marie-Pierre; Dupuis-Girod, Sophie; Till, Marianne; Duffourd, Yannis; Rivière, Jean-Baptiste; Joly, Lorraine; Juif, Christine; Putois, Olivier; Ancet, Pierre; Lapointe, Anne-Sophie; Morin, Paulette; Edery, Patrick; Rossi, Massimiliano; Sanlaville, Damien; Faivre, Laurence
Academic Journal
Delanne, Julian ; Bruel, Ange-Line ; Huet, Frédéric ; Moutton, Sébastien ; Nambot, Sophie ; Grisval, Margot ; Houcinat, Nada ; Kuentz, Paul ; Sorlin, Arthur ; Callier, Patrick ; Jean-Marcais, Nolwenn ; Mosca-Boidron, Anne-Laure ; Mau-Them, Frédéric Tran ; Denommé-Pichon, Anne-Sophie ; Vitobello, Antonio ; Lehalle, Daphné ; El Chehadeh, Salima ; Francannet, Christine ; Lebrun, Marine ; Lambert, Laetitia ; Jacquemont, Marie-Line ; Gerard-Blanluet, Marion ; Alessandri, Jean-Luc ; Willems, Marjolaine ; Thevenon, Julien ; Chouchane, Mondher ; Darmency, Véronique ; Fatus-Fauconnier, Clémence ; Gay, Sébastien ; Bournez, Marie ; Masurel, Alice ; Leguy, Vanessa ; Duffourd, Yannis ; Philippe, Christophe ; Feillet, François ; Faivre, Laurence ; Thauvin-Robinet, Christel
In Molecular Genetics and Metabolism Reports December 2021 29
Academic Journal
Mathilde Lefebvre; Ange-Line Bruel; Emilie Tisserant; Nicolas Bourgon; Yannis Duffourd; Sophie Collardeau-Frachon; Tania Attie-Bitach; Paul Kuentz; Mirna assoum; Elise Schaefer; Salima El Chehadeh; Maria Cristina Antal; Valérie Kremer; Françoise Girard-Lemaitre; Jean-Louis Mandel; Daphne Lehalle; Sophie Nambot; Nolwenn Jean-Marçais; Nada Houcinat; Sébastien Moutton; Nathalie Marle; Laetita Lambert; Philippe Jonveaux; Bernard Foliguet; Jean-Pierre Mazutti; Dominique Gaillard; Elisabeth Alanio; Celine Poirisier; Anne-Sophie Lebre; Marion Aubert-Lenoir; Francine Arbez-Gindre; Sylvie Odent; Chloé Quélin; Philippe Loget; Melanie Fradin; Marjolaine Willems; Nicole Bigi; Marie-José Perez; Sophie Blesson; Christine Francannet; Anne-Marie Beaufrere; Sophie Patrier-Sallebert; Anne-Marie Guerrot; Alice Goldenberg; Anne-Claire Brehin; James Lespinasse; Renaud Touraine; Yline Capri; Marie-Hélène Saint-Frison; Nicole Laurent; Christophe Philippe; Frederic Tran Mau-them; Julien Thevenon; Laurence Faivre; Christel Thauvin-Robinet; Antonio Vitobello
Journal of Medical Genetics. 58:400-413
Academic Journal
Mau-Them, Frédéric Tran; Moutton, Sebastien; Racine, Caroline; Vitobello, Antonio; Bruel, Ange-Line; Nambot, Sophie; Kushner, Steven; de Vrij, Femke; Lehalle, Daphné; Jean-Marçais, Nolwenn; Lecoquierre, François; Delanne, Julian; Thevenon, Julien; Poe, Charlotte; Jouan, Thibaut; Chevarin, Martin; Geneviève, David; Willems, Marjolaine; Coubes, Christine; Houcinat, Nada; Masurel-Paulet, Alice; Mosca-Boidron, Anne-Laure; Tisserant, Emilie; Callier, Patrick; Sorlin, Arthur; Duffourd, Yannis; Faivre, Laurence; Philippe, Christophe; Thauvin-Robinet, Christel
Human Genetics. 139:1381-1390
Academic Journal
Chevarin, Martin; Duffourd, Yannis; a Barnard, Rebecca; Moutton, Sébastien; Lecoquierre, François; Daoud, Fatma; Kuentz, Paul; Cabret, Caroline; Thevenon, Julien; Gautier, Elodie; Callier, Patrick; St-Onge, Judith; Jouan, Thibaud; Lacombe, Didier; Delrue, Marie Ange; Goizet, Cyril; Morice-Picard, Fanny; Van-Gils, Julien; Munnich, Arnold; Lyonnet, Stanislas; Cormier-Daire, Valérie; Baujat, Geneviève; Holder, Muriel; Petit, Florence; Leheup, Bruno; Odent, Sylvie; Jouk, Pierre-Simon; Lopez, Gipsy; Geneviève, David; Collignon, Patrick; Martin-Coignard, Dominique; Jacquette, Aurélia; Perrin, Laurence; Putoux, Audrey; Sarrazin, Elisabeth; Amarof, Khadija; Missotte, Isabelle; Coubes, Christine; Jagadeesh, Sujatha; Lapi, Elisabetta; Demurger, Florence; Goldenberg, Alice; Doco-Fenzy, Martine; Mignot, Cyril; Héron, Delphine; Jean-Marçais, Nolwenn; Masurel, Alice; El Chehadeh, Salima; Marle, Nathalie; Huet, Frédéric; Binquet, Christine; Collod-Beroud, Gwenaëlle; Arnaud, Pauline; Hanna, Nadine; Boileau, Catherine; Jondeau, Guillaume; Olaso, Robert; Lechner, Doris; Poe, Charlotte; Assoum, Mirna; Carmignac, Virginie; Duplomb, Laurence; Tran Mau-Them, Frédéric; Philippe, Christophe; Vitobello, Antonio; Bruel, Ange-Line; Boland, Anne; Deleuze, Jean-François; Thauvin-Robinet, Christel; Rivière, Jean-Baptiste; O'Roak, Brian; Faivre, Laurence
Journal of Medical Genetics. 57:466-474
Academic Journal
Thomas Husson; François Lecoquierre; Gaël Nicolas; Anne-Claire Richard; Alexandra Afenjar; Séverine AUDEBERT-BELLANGER; Catherine Badens; Frédéric Bilan; Varoona Bizaoui; Anne Boland; Marie-Noelle Bonnet-Dupeyron; Elise Brischoux-Boucher; Céline Bonnet; Marie Bournez; Odile Boute; Perrine Brunelle; Roseline Caumes; Perrine Charles; Nicolas Chassaing; Nicolas Chatron; Benjamin Cogné; Estelle Colin; Valérie Cormier-Daire; Rodolphe Dard; Benjamin Dauriat; Julian Delanne; Jean-François Deleuze; Florence Demurger; Anne-Sophie Denommé-Pichon; Christel Depienne; Anne Dieux Coeslier; Christèle Dubourg; Patrick Edery; salima EL CHEHADEH; Laurence Faivre; Mélanie FRADIN; Aurore Garde; David Geneviève; Brigitte Gilbert-Dussardier; Cyril Goizet; Alice Goldenberg; Evan Gouy; Anne-Marie Guerrot; Anne Guimier; Ines HARZALLAH; Delphine Héron; Bertrand Isidor; Xavier Le Guillou Horn; Boris Keren; Alma Kuechler; Elodie Lacaze; Alinoë Lavillaureix; Daphné Lehalle; Gaetan Lesca; James Lespinasse; Jonathan Levy; Stanislas Lyonnet; Godelieve Morel; Nolwenn Jean Marçais; Sandrine Marlin; Luisa Marsili; Cyril Mignot; Sophie Nambot; Mathilde Nizon; Robert Olaso; Laurent PASQUIER; Laurine Perrin; Florence Petit; Amélie Piton; Fabienne Prieur; Audrey Putoux; Marc Planes; Sylvie Odent; Chloé Quelin; Sylvia Quemener; Mélanie Rama; Marlène RIO; Massimiliano Rossi; Elise Schaefer; Sophie Rondeau; Pascale SAUGIER-VEBER; Thomas Smol; Sabine Sigaudy; Renaud TOURAINE; Frédéric Tran-Mau-Them; Aurélien Trimouille; Clémence Vanlerberghe; Valérie Vantalon; Gabriella Vera; Marie Vincent; Alban Ziegler; Olivier Guillin; Dominique Campion; Camille Charbonnier
Academic Journal
David Geneviève; Valentin Ruault; Pauline Burger; Johanna Gradels-Hauguel; Nathalie Ruiz-Pallares; Xtraordinaire Association; Rami Abou Jamra; Alexandra Afenjar; Yves Alembik; Jean-Luc Alessandri; Arpin Stéphanie; Giulia Barcia; Šárka Bendová; Ange-Line Bruel; Perrine Charles; Nicolas Chatron; Maya Chopra; Solène Conrad; Valérie Cormier-Daire; Auriane Cospain; Christine Coubes; Juliette Coursimault; Andrée Delahaye-Duriez; Martine Doco-Fenzy; William Dufour; Benjamin Durand; Camille ENGEL; Laurence Faivre; Fanny Ferroul; Mélanie FRADIN; Hélène Frenkiel; Carlo Fusco; Livia Garavelli; Aurore Garde; Bénédicte Gérard; David Germanaud; Louise Goujon; Aurélie Gouronc; Emmanuelle Ginglinger; Alice Goldenberg; Miroslava Hancarova; Delphine Héron; Bertrand Isidor; Nolwenn Jean Marçais; Boris Keren; Margarete Koch-Hogrebe; Paul Kuentz; Victoria Lamure; Anne-Sophie Lebre; François Lecoquierre; Natacha Lehman; Gaetan Lesca; Stanislas Lyonnet; Delphine Martin; Cyril Mignot; Teresa Neuhann; Gaël Nicolas; Mathilde Nizon; Florence Petit; Christophe Philippe; Amélie Piton; Marzia Pollazzon; Darina Prchalova; Audrey Putoux; Marlène RIO; Sophie Rondeau; Massimiliano Rossi; Quentin Sabbagh; Pascale Saugier-Veber; Ariane Schmetz; Julie Steffann; Christel Thauvin-Robinet; Annick Toutain; Frédéric Tran-Mau-Them; Gabriele Trimarchi; Marie Vincent; Marketa Vlckova; Dagmar Wieczorek; Marjolaine Willems; kevin yauy; Michaela Zelinová; Alban Ziegler; Boris Chaumette; Bekim Sadikovic; Jean-Louis Mandel
Academic Journal
Kvon, Evgeny Z. ; Zhu, Yiwen ; Kelman, Guy ; Novak, Catherine S. ; Plajzer-Frick, Ingrid ; Kato, Momoe ; Garvin, Tyler H. ; Pham, Quan ; Harrington, Anne N. ; Hunter, Riana D. ; Godoy, Janeth ; Meky, Eman M. ; Akiyama, Jennifer A. ; Afzal, Veena ; Tran, Stella ; Escande, Fabienne ; Gilbert-Dussardier, Brigitte ; Jean-Marçais, Nolwenn ; Hudaiberdiev, Sanjarbek ; Ovcharenko, Ivan ; Dobbs, Matthew B. ; Gurnett, Christina A. ; Manouvrier-Hanu, Sylvie ; Petit, Florence ; Visel, Axel ; Dickel, Diane E. ; Pennacchio, Len A.
In Cell 19 March 2020 180(6):1262-1271
Academic Journal
Juven, Aurélien; Nambot, Sophie; Piton, Amélie; Jean-Marçais, Nolwenn; Masurel, Alice; Callier, Patrick; Marle, Nathalie; Mosca-Boidron, Anne-Laure; Kuentz, Paul; Philippe, Christophe; Chevarin, Martin; Duffourd, Yannis; Gautier, Élodie; Munnich, Arnold; Rio, Marlene; Rondeau, Sophie; El Chehadeh, Salima; Schaefer, Elise; Gerard, Bénédicte; Bouquillon, Sonia; Delorme, Catherine Vincent; Francannet, Christine; Laffargue, Fanny; Gouas, Laetitia; Isidor, Bertrand; Vincent, Marie; Blesson, Sophie; Giuliano, Fabienne; Pichon, Olivier; Le Caignec, Cédric; Journel, Hubert; Perrin-Sabourin, Laurence; Fabre-Teste, Jennifer; Martin, Dominique; Vieville, Gaëlle; Dieterich, Klaus; Lacombe, Didier; Denommé-Pichon, Anne-Sophie; Thauvin-Robinet, Christel; Faivre, Laurence
European Journal of Human Genetics. 28:1044-1055
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Estelle Colin; Yannis Duffourd; Emilie Tisserant; Raissa Relator; Ange-Line Bruel; Frédéric Tran Mau-Them; Anne-Sophie Denommé-Pichon; Hana Safraou; Julian Delanne; Nolwenn Jean-Marçais; Boris Keren; Bertrand Isidor; Marie Vincent; Cyril Mignot; Delphine Heron; Alexandra Afenjar; Solveig Heide; Anne Faudet; Perrine Charles; Sylvie Odent; Yvan Herenger; Arthur Sorlin; Sébastien Moutton; Jennifer Kerkhof; Haley McConkey; Martin Chevarin; Charlotte Poë; Victor Couturier; Valentin Bourgeois; Patrick Callier; Anne Boland; Robert Olaso; Christophe Philippe; Bekim Sadikovic; Christel Thauvin-Robinet; Laurence Faivre; Jean-François Deleuze; Antonio Vitobello
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Academic Journal
Bruel, Ange-Line; Vitobello, Antonio; Mau-Them, Frédéric Tran; Nambot, Sophie; Duffourd, Yannis; Quéré, Virginie; Kuentz, Paul; Garret, Philippine; Thevenon, Julien; Moutton, Sébastien; Lehalle, Daphne; Jean-Marçais, Nolwenn; Garde, Aurore; Delanne, Julian; Lefebvre, Mathilde; Lecoquierre, François; Trost, Detlef; Cho, Megan; Begtrup, Amber; Telegrafi, Aida; Vabres, Pierre; Mosca-Boidron, Anne-Laure; Callier, Patrick; Philippe, Christophe; Faivre, Laurence; Thauvin-Robinet, Christel
Genetics in Medicine. 21:1657-1661
Academic Journal
Ange-Line Bruel; Sophie Nambot; Virginie Quéré; Antonio Vitobello; Julien Thevenon; Mirna Assoum; Sébastien Moutton; Nada Houcinat; Daphné Lehalle; Nolwenn Jean-Marçais; Alain Verloès; Alexandra Karsenti; Alice Goldenberg; Aurélia Jacquette; Béatrice Jouret; Béatrice Laudier; Christine Coubes; Christine Francannet; David Geneviève; Delphine Heron; Didier Lacombe; Elise Schaefer; Elodie Lacaze; Emmanuel Jacquemin; Fabienne Prieur; Fanny Laffarge; Florence Petit; François Feillet; Gilles Morin; Gwenaëlle Diene; James Lespinasse; Jeanne Amiel; Judith Melki; Laëtitia Lambert; Laurence Perrin; Lucile Pinson; Marie-Line Jacquemont; Marie-Pierre Cordier-Alex; Marine Lebrun; Marion Gérard-Blanluet; Marjolaine Willems; Massimiliano Rossi; Nicolas Chassaing; Nicole Philip; Renaud Touraine; Salima El-Chehadeh; Séverine Audebert-Bellanger; Sophie Blesson; Yline Capri; Martin Chevarin; Thibaud Jouan; Charlotte Poë; Patrick Callier; Emilie Tisserand; Christophe Philippe; Frédéric Tran Mau Them; Yannis Duffourd; Laurence Faivre; Christel Thauvin-Robinet
European Journal of Human Genetics. 27:1519-1531
Academic Journal
Thauvin-Robinet, Christel; Thevenon, Julien; Nambot, Sophie; Delanne, Julian; Kuentz, Paul; Bruel, Ange-Line; Chassagne, Aline; Cretin, Elodie; Pelissier, Aurore; Peyron, Christine; Gautier, Elodie; Lehalle, Daphné; Jean-Marçais, Nolwenn; Callier, Patrick; Mosca-Boidron, Anne-Laure; Vitobello, Antonio; Sorlin, Arthur; Tran Mau-Them, Frédéric; Philippe, Christophe; Vabres, Pierre; Demougeot, Laurent; Poé, Charlotte; Jouan, Thibaud; Chevarin, Martin; Lefebvre, Mathilde; Bardou, Marc; Tisserant, Emilie; Luu, Maxime; Binquet, Christine; Deleuze, Jean-François; Verstuyft, Céline; Duffourd, Yannis; Faivre, Laurence
European Journal of Human Genetics. 27:1197-1214
Academic Journal
Carapito, Raphael; Ivanova, Ekaterina L.; Morlon, Aurore; Meng, Linyan; Molitor, Anne; Erdmann, Eva; Kieffer, Bruno; Pichot, Angélique; Naegely, Lydie; Kolmer, Aline; Paul, Nicodème; Hanauer, Antoine; Tran Mau-Them, Frédéric; Jean-Marçais, Nolwenn; Hiatt, Susan M.; Cooper, Gregory M.; Tvrdik, Tatiana; Muir, Alison M.; Dimartino, Clémantine; Chopra, Maya; Amiel, Jeanne; Gordon, Christopher T.; Dutreux, Fabien; Garde, Aurore; Thauvin-Robinet, Christel; Wang, Xia; Leduc, Magalie S.; Phillips, Meredith; Crawford, Heather P.; Kukolich, Mary K.; Hunt, David; Harrison, Victoria; Kharbanda, Mira; Smigiel, Robert; Gold, Nina; Hung, Christina Y.; Viskochil, David H.; Dugan, Sarah L.; Bayrak-Toydemir, Pinar; Joly-Helas, Géraldine; Guerrot, Anne-Marie; Schluth-Bolard, Caroline; Rio, Marlène; Wentzensen, Ingrid M.; Mcwalter, Kirsty; Schnur, Rhonda E.; Lewis, Andrea M.; Lalani, Seema R.; Mensah-Bonsu, Noël; Céraline, Jocelyn; Sun, Zijie; Ploski, Rafal; Bacino, Carlos A.; Mefford, Heather C.; Faivre, Laurence; Bodamer, Olaf; Chelly, Jamel; Isidor, Bertrand; Bahram, Seiamak
The American Journal of Human Genetics. 104:319-330
Academic Journal
Aline Chassagne; Aurore Pélissier; Françoise Houdayer; Elodie Cretin; Elodie Gautier; Dominique Salvi; Sarah Kidri; Aurélie Godard; Christel Thauvin-Robinet; Alice Masurel; Daphné Lehalle; Nolwenn Jean-Marçais; Julien Thevenon; Gaetan Lesca; Audrey Putoux; Marie-Pierre Cordier; Sophie Dupuis-Girod; Marianne Till; Yannis Duffourd; Jean-Baptiste Rivière; Lorraine Joly; Christine Juif; Olivier Putois; Pierre Ancet; Anne-Sophie Lapointe; Paulette Morin; Patrick Edery; Massimiliano Rossi; Damien Sanlaville; Sophie Béjean; Christine Peyron; Laurence Faivre
European Journal of Human Genetics. 27:701-710
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