학술논문
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'학술논문'
에서 검색결과 180건 | 목록
1~20
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Pauline Arnaud; Zakaria Mougin; Genevieve Baujat; Valérie Drouin-Garraud; Salima El Chehadeh; Laurent Gouya; Sylvie Odent; Guillaume Jondeau; Catherine Boileau; Nadine Hanna; Carine Le Goff
J Med Genet
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
Bergqvist, Christina; Fertitta, Laura; Ezzedine, Khaled; Jannic, Arnaud; Zehou, Ouidad; Ferkal, Salah; Combemale, Patrick; Barbarot, Sébastien; Mazereeuw-Hautier, Juliette; Sbidian, Emilie; Wolkenstein, Pierre; Adamski, Henri; Baumann-Morel, Clarisse; Bellanné, Christine; Bieth, Eric; Bousquet, Pascal; Brandt, Christian; Balguerie, Xavier; Castelnau, Pierre; Chaix, Yves; Chevrant-Breton, Jacqueline; Collet, Evelyne; Cuny, Jean‐françois; Chastagner, Pascal; Chandeclerc, Marie‐lorraine; Cheuret, Emmanuel; Cintas, Pascal; Dollfus, Helene; Derancourt, Christian; Drouin-Garraud, Valérie; d'Incan, Michel; de Leersnyder, Hélène; Dereure, Olivier; Doumar, Diane; Fabre, Nicolas; Francannet, Christine; Faivre, Laurence; Fellmann, Florence; Feugier, Nathalie; Gaillard, Dominique; Goldenberg, Alice; Guyant-Marechal, Lucie; Guillot, Bernard; Guillamo, Jean‐sebastien; Hadj-Rabia, Smaïl; Hamel-Teillac, Dominique; Kemlin, Isabelle; Lacour, Jean‐philippe; Laithier, Veronique; Lesavre, Nathalie; Lyonnet, Stanislas; Maincent, Kim; Maradeix, Sophie; Machet, Laurent; Mansat, Eva; Meyer, Nicolas; Mozelle, Monique; Celine Moret, Jean Christophe Moreno; Puzenat, Eric; Parfait, Béatrice; Pinson, Stéphane; Pasmant, Eric; Rodriguez, Diana; Stalder, Jean‐françois; Schweitzer, Elisabeth; Thalamas, Claire; Thauvin, Christel; Vidaud, Dominique; Vidaud, Michel; Verloes, Alain; Zeller, Jacques
Journal of the European Academy of Dermatology and Venereology. 36:739-743
Academic Journal
Thomas, Lucie; Bouhouche, Khaled; Whitfield, Marjorie; Thouvenin, Guillaume; Coste, André; Louis, Bruno; Szymanski, Claire; Bequignon, Emilie; Papon, Jean-François; Castelli, Manon; Lemullois, Michel; Dhalluin, Xavier; Drouin-Garraud, Valérie; Montantin, Guy; Tissier, Sylvie; Duquesnoy, Philippe; Copin, Bruno; Dastot - Le Moal, Florence; Couvet, Sandrine; Barbotin, Anne Laure; Faucon, Catherine; Honoré, Isabelle; Maitre, Bernard; Beydon, Nicole; Tamalet, Aline; Rives, Nathalie; Koll, France; Escudier, Estelle; Tassin, Anne-Marie; Touré, Aminata; Mitchell, Valerie; Amselem, Serge; Legendre, Marie
The American Journal of Human Genetics. 106:153-169
Academic Journal
Coursimault, Juliette ; Lecoquierre, François ; Saugier-Veber, Pascale ; Drouin-Garraud, Valérie ; Lechevallier, Joël ; Boland, Anne ; Deleuze, Jean-François ; Frebourg, Thierry ; Nicolas, Gaël ; Brehin, Anne-Claire
In European Journal of Medical Genetics April 2021 64(4)
Academic Journal
Bruneel, Arnaud; Cholet, Sophie; Drouin-Garraud, Valérie; Jacquemont, Marie-Line; Cano, Aline; Mégarbané, André; Ruel, Coralie; Cheillan, David; Dupré, Thierry; Vuillaumier-Barrot, Sandrine; Séta, Nathalie; Fenaille, François
ELECTROPHORESIS. 39:3123-3132
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Thomas Husson; François Lecoquierre; Kevin Cassinari; Camille Charbonnier; Olivier Quenez; Alice Goldenberg; Anne-Marie Guerrot; Anne-Claire Richard; Valérie Drouin-Garraud; Anne-Claire Brehin; Maryam Soleimani; Romain Taton; Maud Rotharmel; Antoine Rosier; Pascal Chambon; Nathalie Le Meur; Géraldine Joly-Helas; Pascale Saugier-Veber; Anne Boland; Jean-François Deleuze; Robert Olaso; Thierry Frebourg; Gael Nicolas; Olivier Guillin; Dominique Campion
Translational Psychiatry, Vol 10, Iss 1, Pp 1-8 (2020)
Academic Journal
Manuel Schiff; Céline Roda; Marie-Lorraine Monin; Alina Arion; Magali Barth; Nathalie Bednarek; Maud Bidet; Catherine Bloch; Nathalie Boddaert; Delphine Borgel; Anaïs Brassier; Alexis Brice; Arnaud Bruneel; Roger Buissonnière; Brigitte Chabrol; Marie-Chantal Chevalier; Valérie Cormier-Daire; Claire De Barace; Emmanuel De Maistre; Anne De Saint-Martin; Nathalie Dorison; Valérie Drouin-Garraud; Thierry Dupré; Bernard Echenne; Patrick Edery; François Feillet; Isabelle Fontan; Christine Francannet; François Labarthe; Cyril Gitiaux; Delphine Héron; Marie Hully; Sylvie Lamoureux; Dominique Martin-Coignard; Cyril Mignot; Gilles Morin; Tiffany Pascreau; Olivier Pincemaille; Michel Polak; Agathe Roubertie; Christel Thauvin-Robinet; Annick Toutain; Géraldine Viot; Sandrine Vuillaumier-Barrot; Nathalie Seta; Pascale De Lonlay
Journal of Medical Genetics. 54:843-851
Academic Journal
Sarah, Grotto; Bénédicte, Sudrié-Arnaud; Valérie, Drouin-Garraud; Catherine, Nafeh-Bizet; Bernadette, Chadefaux-Vekemans; Stéphanie, Gobin; Soumeya, Bekri; Abdellah, Tebani
Clinical Chemistry. 64:752-754
Academic Journal
Villanueva, Carine ; Jacobson-Dickman, Elka ; Xu, Cheng ; Manouvrier, Sylvie ; Dwyer, Andrew A. ; Sykiotis, Gerasimos P. ; Beenken, Andrew ; Liu, Yang ; Tommiska, Johanna ; Hu, Youli ; Tiosano, Dov ; Gerard, Marion ; Leger, Juliane ; Drouin-Garraud, Valérie ; Lefebvre, Hervé ; Polak, Michel ; Carel, Jean-Claude ; Phan-Hug, Franziska ; Hauschild, Michael ; Plummer, Lacey ; Rey, Jean-Pierre ; Raivio, Taneli ; Bouloux, Pierre ; Sidis, Yisrael ; Mohammadi, Moosa ; de Roux, Nicolas ; Pitteloud, Nelly
In Genetics in Medicine August 2015 17(8):651-659
Academic Journal
Laquérriere, Annie; Maluenda, Jérome; Camus, Adrien; Fontenas, Laura; Dieterich, Klaus; Nolent, Flora; Zhou, Jié; Monnier, Nicole; Latour, Philippe; Gentil, Damien; Héron, Delphine; Desguerres, Isabelle; Landrieu, Pierre; Beneteau, Claire; Delaporte, Benoit; Bellesme, Céline; Baumann, Clarisse; Capri, Yline; Goldenberg, Alice; Lyonnet, Stanislas; Bonneau, Dominique; Estournet, Brigitte; Quijano-Roy, Susana; Francannet, Christine; Odent, Sylvie; Saint-Frison, Marie-Hélène; Sigaudy, Sabine; Figarella-Branger, Dominique; Gelot, Antoinette; Mussini, Jean-Marie; Lacroix, Catherine; Drouin-Garraud, Valerie; Malinge, Marie-Claire; Attié-Bitach, Tania; Bessieres, Bettina; Bonniere, Maryse; Encha-Razavi, Ferechte; Beaufrère, Anne-Marie; Khung-Savatovsky, Suonary; Perez, Marie José; Vasiljevic, Alexandre; Mercier, Sandra; Roume, Joelle; Trestard, Laetitia; Saugier-Veber, Pascale; Cordier, Marie-Pierre; Layet, Valérie; Legendre, Marine; Vigouroux-Castera, Adeline; Lunardi, Joel; Bayes, Monica; Jouk, Pierre S.; Rigonnot, Luc; Granier, Michèle; Sternberg, Damien; Warszawski, Josiane; Gut, Ivo; Gonzales, Marie; Tawk, Marcel; Melki, Judith
Human Molecular Genetics. 23:2279-2289
Academic Journal
Böhm, Johann; Biancalana, Valérie; Dechene, Elizabeth T; Bitoun, Marc; Pierson, Christophe; Schaefer, Elise; Karasoy, Hatice; Dempsey, Melissa A; Klein, Fabrice; Dondaine, Nicolas; Kretz, Christine; Haumesser, Nicolas; Poirson, Claire; Toussaint, Anne; Greenleaf, Rebecca S; Barger, Melissa A; Mahoney, Lane J; Kang, Peter B; Zanoteli, Edmar; Vissing, John; Witting, Nanna; Echaniz-Laguna, Andoni; Wallgren-Pettersson, Carina; Dowling, James; Merlini, Luciano; Oldfors, Anders; Bomme Ousager, Lilian; Melki, Judith; Krause, Amanda; Jern, Christina; Oliveira, Acary S B; Petit, Florence; Jacquette, Aurélia; Chaussenot, Annabelle; Mowat, David; Leheup, Bruno; Michel, Michele; Poza Aldea, Juan José; Michel, Fabrice; Furby, Alain; Llona, Jose E Barcena; van Coster, Rudy; Bertini, Enrico; Urtizberea, Jon Andoni; Drouin-Garraud, Valérie; Béroud, Christophe; Prudhon, Bernard; Bedford, Melanie; Mathews, Katherine; Erby, Lori a H; Smith, Stephen A; Roggenbuck, Jennifer; Crowe, Carol A; Brennan Spitale, Allison; Johal, Sheila C; Amato, Anthony A; Demmer, Laurie A; Jonas, Jessica; Darras, Basil T; Bird, Thomas D; Laurino, Mercy; Welt, Selman I; Trotter, Cynthia; Guicheney, Pascale; Das, Soma; Mandel, Jean-Louis; Beggs, Alan H; Laporte, Jocelyn; Dechene, Elizabeth T.; Dempsey, Melissa A.; Greenleaf, Rebecca S.; Barger, Melissa A.; Mahoney, Lane J.; Kang, Peter B.; Oliveira, Acary S. B.; Llona, Jose E. Barcena; Erby, Lori A. H.; Smith, Stephen A.; Crowe, Carol A.; Johal, Sheila C.; Amato, Anthony A.; Demmer, Laurie A.; Darras, Basil T.; Bird, Thomas D.; Welt, Selman I.; Beggs, Alan H.
Böhm, J, Biancalana, V, Dechene, E T, Bitoun, M, Pierson, C R, Schaefer, E, Karasoy, H, Dempsey, M A, Klein, F, Dondaine, N, Kretz, C, Haumesser, N, Poirson, C, Toussaint, A, Greenleaf, R S, Barger, M A, Mahoney, L J, Kang, P B, Zanoteli, E, Vissing, J, Witting, N, Echaniz-Laguna, A, Wallgren-Pettersson, C, Dowling, J, Merlini, L, Oldfors, A, Ousager, L B, Melki, J, Krause, A, Jern, C, Oliveira, A S B, Petit, F, Jacquette, A, Chaussenot, A, Mowat, D, Leheup, B, Cristofano, M, Poza Aldea, J J, Michel, F, Furby, A, Llona, J E B, Van Coster, R, Bertini, E, Urtizberea, J A, Drouin -Garraud , V, Béroud, C, Prudhon, B, Bedford, M, Mathews, K, Erby, L A H, Smith, S A, Roggenbuck, J, Crowe, C A, Brennan Spitale, A, Johal, S C, Amato, A A, Demmer, L A, Jonas, J, Darras, B T, Bird, T D, Laurino, M, Welt, S I, Trotter, C, Guicheney, P, Das, S, Mandel, J-L, Beggs, A H & Laporte, J 2012, ' Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy ', Human Mutation, vol. 33, no. 6, pp. 949-59 . https://doi.org/10.1002/humu.22067
Human Mutation
Human Mutation
Academic Journal
Allali, Slimane; Le Goff, Carine; Pressac-Diebold, Isabelle; Pfenning, Gwendolyne; Mahaut, Clã©mentine; Dagoneau, Nathalie; Alanay, Yasemin; Brady, Angela F.; Crow, Yanick J.; Devriendt, Koen; Drouin-Garraud, Valérie; Flori, Elisabeth; Genevieve, David; Hennekam, Raoul C.; Hurst, Jane A; Krakow, Deborah; Le Merrer, Martine; Lichtenbelt, K. D.; Lynch, Sally A.; Lyonnet, Stanislas; Macdermot, K.; Mansour, Sahar; Mégarbané, André; Santos, Heloisa G.; Splitt, Miranda; Superti-Furga, Andrea; Unger, Sheila; Williams, Denise; Munnich, Arnold; Cormier-Daire, Valérie
Journal of Medical Genetics, vol. 48, no. 6, pp. 417-421
Allali, S, Le Goff, C, Pressace-Diebold, I, Pfennig, G, Mahaut, C, Dagoneau, N, Alanay, Y, Brady, A F, Crow, Y J, Devriendt, K,Drouin -Garraud , V, Flori, E, Geneviève, D, Hennekam, R C, Hurst, J, Krakow, D, Le Merrer, M, Lichtenbelt, K D, Lynch, S A, Lyonnet, S, MacDermot, K, Mansour, S, Megarbané, A, Santos, H G, Splitt, M, Superti-Furga, A, Unger, S, Williams, D, Munnich, A & Cormier-Daire, V 2011, ' Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia ', Journal of Medical Genetics, vol. 48, no. 6, pp. 417-421 . https://doi.org/10.1136/jmg.2010.087544
Allali, S, Le Goff, C, Pressace-Diebold, I, Pfennig, G, Mahaut, C, Dagoneau, N, Alanay, Y, Brady, A F, Crow, Y J, Devriendt, K,
Academic Journal
Guilmatre, Audrey; Legallic, Solenn; Steel, Gary; Willis, Alecia; Di Rosa, Gabriella; Goldenberg, Alice; Drouin-Garraud, Valérie; Guet, Agnès; Mignot, Cyril; Des Portes, Vincent; Valayannopoulos, Vassili; van Maldergem, Lionel; Hoffman, Jodi D; Izzi, Claudia; Espil-Taris, Caroline; Orcesi, Simona; Bonafé, Luisa; Le Galloudec, Eric; Maurey, Hélène; Ioos, Christine; Afenjar, Alexandra; Blanchet, Patricia; Echenne, Bernard; Roubertie, Agathe; Frebourg, Thierry; Valle, David; Campion, Dominique
Human Mutation. 31:961-965
Academic Journal
Laugel, Vincent; Dalloz, Cécile; Durand, M.; Sauvanaud, Florence; Kristensen, Hans-Ulrik; Vincent, Marie-Claire; Pasquier, Laurent; Odent, Sylvie; Cormier-Daire, Valérie; Gener, Blanca; Tobias, Edward Spencer; Tolmie, John Lorimer; Martin-Coignard, Dominique; Drouin-Garraud, Valérie; Heron, Delphine; Journel, Hubert; Raffo, Emmanuel; Vigneron, Jaqueline; Lyonnet, Stanislas; Murday, Victoria Alice; Gubser-Mercati, Danielle; Funalot, Benoît; Brueton, Louise; Sanchez del Pozo, Jaime; Muñoz, E.; Gennery, Andrew; Salih, M.; Noruzinia, Mehrdad; Prescott, K.; Ramos, L.; Stark, Zornitza; Fieggen, Karen; Chabrol, Brigitte; Sarda, Pierre; Edery, Patrick; Bloch-Zupan, Agnès; Fawcett, H.; Pham, Danièle; Egly, Jean-Marc; Lehmann, Alan; Sarasin, Alain; Dollfus, Hélène
Human Mutation. 31:113-126
Academic Journal
Claire Redin; Bénédicte Gérard; Julia Lauer; Yvan Herenger; Jean Muller; Angélique Quartier; Alice Masurel-Paulet; Marjolaine Willems; Gaétan Lesca; Salima El-Chehadeh; Stéphanie Le Gras; Serge Vicaire; Muriel Philipps; Michaël Dumas; Véronique Geoffroy; Claire Feger; Nicolas Haumesser; Yves Alembik; Magalie Barth; Dominique Bonneau; Estelle Colin; Hélène Dollfus; Bérénice Doray; Marie-Ange Delrue; Valérie Drouin-Garraud; Elisabeth Flori; Mélanie Fradin; Christine Francannet; Alice Goldenberg; Serge Lumbroso; Michèle Mathieu-Dramard; Dominique Martin-Coignard; Didier Lacombe; Gilles Morin; Anne Polge; Sylvie Sukno; Christel Thauvin-Robinet; Julien Thevenon; Martine Doco-Fenzy; David Genevieve; Pierre Sarda; Patrick Edery; Bertrand Isidor; Bernard Jost; Laurence Olivier-Faivre; Jean-Louis Mandel; Amélie Piton
J Med Genet
Academic Journal
Grotto, Sarah; Drouin-Garraud, Valérie; Õunap, Katrin; Puusepp-Benazzouz, Helen; Schuurs-Hoeijmakers, Janneke; Le Meur, Nathalie; Chambon, Pascal; Fehrenbach, Séverine; van Bokhoven, Hans; Frébourg, Thierry; de Brouwer, Arjan P.M.; Saugier-Veber, Pascale
European Journal of Medical Genetics. 57(5):200-206
Academic Journal
Pascale, Saugier-Veber; Céline, Bonnet; Alexandra, Afenjar; Valérie, Drouin-Garraud; Christine, Coubes; Séverine, Fehrenbach; Muriel, Holder-Espinasse; Joëlle, Roume; Valérie, Malan; Marie-France, Portnoi; Nicolas, Jeanne; Clarisse, Baumann; Delphine, Héron; Albert, David; Marion, Gérard; Dominique, Bonneau; Didier, Lacombe; Valérie, Cormier-Daire; Thierry, Billette de Villemeur; Thierry, Frébourg; Lydie, Bürglen
Human Mutation. 28:1098-1107
Academic Journal
Raux, Gregory; Bumsel, Emilie; Hecketsweiler, Bernadette; Amelsvoort, Therese; Zinkstok, Janneke; Manouvrier-Hanu, Sylvie; Fantini, Carole; Breviere, Georges-Marie M.; Di Rosa, Gabriella; Pustorino, Giuseppina; Vogels, Annick; Swillen, Ann; Legallic, Solenn; Bou, Jacqueline; Opolczynski, Gaelle; Drouin-Garraud, Valérie; Lemarchand, Marie; Philip, Nicole; Gerard-Desplanches, Aude; Carlier, Michèle; Philippe, Anne; Nolen, Marie Christine; Heron, Delphine; Sarda, Pierre; Lacombe, Didier; Coizet, Cyril; Alembik, Yves; Layet, Valérie; Afenjar, Alexandra; Hannequin, Didier; Demily, Caroline; Petit, Michel; Thibaut, Florence; Frebourg, Thierry; Campion, Dominique
Human Molecular Genetics. 16:83-91
Academic Journal
Pascale, Saugier-Veber; Alice, Goldenberg; Valérie, Drouin-Garraud; Céline, de La Rochebrochard; Valérie, Layet; Nathalie, Drouot; Nathalie, Le Meur; Brigitte, Gilbert-Du-Ssardier; Géraldine, Joly-Hélas; Hélène, Moirot; Annick, Rossi; Mario, Tosi; Thierry, Frébourg
European Journal of Human Genetics. 14:1009-1017
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