학술논문
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'학술논문'
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1~20
Academic Journal
Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Céline; Alders, Mariëlle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogné, Benjamin; Cormier-Daire, Valérie; Delanne, Julian; Demaret, Tanguy; Denommé-Pichon, Anne-Sophie; Désir, Julie; Dubourg, Christèle; Fradin, Mélanie; Geneviève, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W.; Guichet, Agnès; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; McConkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clément; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frédéric Tran; Trost, Detlef; Van der Sluijs, Pleuntje J; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle
European Journal of Human Genetics. 33(11):1422-1431
Academic Journal
Küry, Sébastien; Stanton, Janelle E.; van Woerden, Geeske M.; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J.; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M.; Thiel, Franziska G.; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M.; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A.; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G.; Mullegama, Sureni V.; Volker-Touw, Catharina M. L. Nienke; van Gassen, Koen L. I.; Oegema, Renske; de Pagter, Mirjam S.; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V.; Bernier, Raphael A.; Turner, Tychele N.; Srivastava, Siddharth; Dies, Kira A.; Swanson, Lindsay C.; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K.; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B.; Malicdan, May Christine V.; Adams, David R.; Wolfe, Lynne; Ganetzky, Rebecca D.; Muraresku, Colleen C.; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T.; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, MJ; Costain, Gregory; Prendergast, D’Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J.; Bryson, Lisa J.; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L.; Cueto-González, Anna M.; Tizzano, Eduardo F.; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J.; McRae, Anne M.; Lessard, Mathieu K.; D’Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B.; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L.; Schroeder, Molly C.; Gooch, Catherine; Smith, Raphael A.; Pandya, Arti; Busch, Larissa M.; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W.; Eichler, Evan E.; McWalter, Kirsty; Krawitz, Peter M.; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M.; Bolduc, Francois V.; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke
Nature Communications. 16(1)
Academic Journal
Mirzaa, Ghayda M.; Yan, Keqin; Relator, Raissa; Levesque, Mathieu; Jayasinghe, Pranisha; Timpano, Sara; Yalcin, Binnaz; Collins, Stephan; Ziegler, Alban; Pao, Emily; Oyama, Nora; Brischoux-Boucher, Elise; Piard, Juliette; Monaghan, Kristin G.; Guillen Sacoto, Maria. J.; Dobyns, William B.; Park, Kristen L.; Fernández-Mayoralas, Daniel Martin; Fernández-Jaén, Alberto; Jayakar, Parul; Palomares-Bralo, María; Santos-Simarro, Fernando; Brusco, Alfredo; Antona, Vincenzo; Giorgio, Elisa; Kvarnung, Malin; Isidor, Bertrand; Conrad, Solène; Cogné, Benjamin; Deb, Wallid; Stuurman, Kyra E.; Štěrbová, Katalin; Smal, Noor; Weckhuysen, Sarah; Oegema, Renske; Innes, A. Micheil; Koboldt, Daniel. C.; Ben-Omran, Tawfeg; Yeh, Rebecca C.; Kruer, Michael C.; Bakhtiari, Somayeh; Papavasiliou, Antigone; Moutton, Sébastien; Nambot, Sophie; Chanprasert, Sirisak; Paolucci, Sarah A.; Miller, Kait; Burton, Barbara; Kim, Katherine; O’Heir, Emily; Bruwer, Zandre; Donald, Kirsten. A.; Kleefstra, Tjitske; Goldstein, Amy; Angle, Brad; Bontempo, Kelly; Miny, Peter; Joset, Pascal; Demurger, Florence; Hobson, Emma; Pang, Lewis; Carpenter, Lori; Li, Dong; Bonneau, Dominique; Sadikovic, Bekim; Picketts, David J.
Nature Communications. 16(1)
Academic Journal
El Chehadeh, Salima; Heide, Solveig; Quélin, Chloé; Rio, Marlène; Margot, Henri; Geneviève, David; Isidor, Bertrand; Goldenberg, Alice; Guégan, Caroline; Lesca, Gaëtan; Willems, Marjolaine; Ormières, Clothilde; Caumes, Roseline; Busa, Tiffany; Bonneau, Dominique; Guerrot, Anne-Marie; Marey, Isabelle; Vera, Gabriella; Marzin, Pauline; Philippe, Anaïs; Garde, Aurore; Coubes, Christine; Vincent, Marie; Michaud, Vincent; Mignot, Cyril; Charles, Perrine; Sigaudy, Sabine; Edery, Patrick; Lacombe, Didier; Boland, Anne; Nowak, Frédérique; Bouctot, Marion; Humbert-Asensio, Marie-Laure; Simon, Alban; Chennen, Kirsley; Sabour, Niki; Delmas, Christelle; Nicolas, Gaël; Saugier-Veber, Pascale; Lecoquierre, François; Cassinari, Kévin; Keren, Boris; Courtin, Thomas; De Sainte Agathe, Jean-Madeleine; Malan, Valérie; Barcia, Giulia; Tran Mau-Them, Frédéric; Safraou, Hana; Philippe, Christophe; Thévenon, Julien; Chatron, Nicolas; Januel, Louis; Piton, Amélie; Haushalter, Virginie; Gérard, Bénédicte; Lejeune, Catherine; Faivre, Laurence; Sanlaville, Damien; Héron, Delphine; Odent, Sylvie; Nitschké, Patrick; Schluth-Bolard, Caroline; Lyonnet, Stanislas; Deleuze, Jean-François; Binquet, Christine; Dollfus, Hélène
Genome Medicine. 17(1)
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
Margot, Henri; Jones, Natalie; Matis, Thibaut; Bonneau, Dominique; Busa, Tiffany; Bonnet, Françoise; Conrad, Solene; Crivelli, Louise; Monin, Pauline; Fert-Ferrer, Sandra; Mortemousque, Isabelle; Raad, Sabine; Lacombe, Didier; Caux, Frédéric; Sevenet, Nicolas; Bubien, Virginie; Longy, Michel
Journal of Medical Genetics. 61:1071-1079
Academic Journal
Milon, Vincent; Malinge, Marie-Claire; Blanluet, Maud; Tessarech, Marine; Battault, Clarisse; Prestwich, Sarah; Vary, Béatrice; Gueracher, Pierre; Legoff, Louis; Barth, Magalie; Houdayer, Clara; Guichet, Agnès; Rousseau, Audrey; Bonneau, Dominique; Procaccio, Vincent; Bris, Céline; Colin, Estelle
European Journal of Human Genetics. 32(12):1590-1598
Academic Journal
Huang, Liping ; Nguyen, Steven T. ; Yang, Zhongyue ; Kirschke, Catherine P. ; Prouteau, Clément ; Copin, Marie-Christine ; Bonneau, Dominique ; Blanchet, Odile ; Mallebranche, Coralie ; Pellier, Isabelle ; Coutant, Régis ; Miot, Charline ; Ziegler, Alban
In Journal of Trace Elements in Medicine and Biology June 2025 89
Academic Journal
Bocca, Cinzia; Kouassi-Nzoughet, Judith; Chao de la Barca, Juan Manuel; Bonneau, Dominique; Verny, Christophe; Gohier, Philippe; Orssaud, Christophe; Reynier, Pascal
Acta Neuropathologica Communications. 12(1)
Academic Journal
van Oirsouw, Amber S.E. ; Nedbalova, Pavla ; Hancarova, Miroslava ; Prchal, Jan ; Prchalova, Darina ; Vlckova, Marketa ; Bendova, Sarka ; Monaghan, Kristin G. ; Dyer, Lisa M. ; Chen, Yanmin ; Carere, Deanna Alexis ; te Bogt, Emma A.M. ; Fisher, Heather ; Scheuerle, Angela E. ; Riley, Stephanie ; Jain, Mahim ; Mu, Weiyi ; Bodurtha, Joann N. ; van Eerde, Albertien M. ; Stokman, Marijn F. ; Longo, Nicola ; Balasubramanian, Meena ; Spiller, Michael ; Costain, Gregory ; Lippe, Charlotte von der ; Tveten, Kristian ; Jortveit, Marianne ; Holla, Øystein L. ; Isidor, Bertrand ; Cogné, Benjamin ; Glinton, Kevin E. ; Vuocolo, Blake ; Sierra, Roberta Ann ; Angle, Brad ; Bontempo, Kelly ; Koop, Klaas ; Rabin, Rachel ; Pappas, John ; Staffenberg, David A. ; Joset, Pascal ; Miny, Peter ; Filges, Isabel ; Alali, Abdulrazak ; Vitalone, Kara ; Rosenfeld, Jill A. ; Bi, Weimin ; Bradbrook, Samuel ; Perrier, Renee ; Ramanathan, Subhadra ; Gold, June-Anne ; Bralo, María Palomares ; Gómez-Cano, María Ángeles ; Olney, Ann Haskins ; Nielsen, Shelly ; Ziegler, Alban ; Bonneau, Dominique ; Prouteau, Clément ; Bruel, Ange-Line ; Caille-Benigni, Charlotte ; Lambert, Laëtitia ; Yu, Andrea C. ; Robin, Nathaniel H. ; Goodloe, Dana ; Fischer, Jan ; Porrmann, Joseph ; Hennig, Yvonne D. ; Jamra, Rami Abou ; Herman, Isabella ; Johnson, Ivy R. ; Hérissant, Lucas ; Jouret, Guillaume ; van Gassen, Koen L.I. ; van Binsbergen, Ellen ; van der Zwaag, Bert ; Kamermans, Alwin ; Oegema, Renske ; Sedlacek, Zdenek ; Fenckova, Michaela ; van Jaarsveld, Richard H.
In Genetics in Medicine August 2025
Academic Journal
Mio Aerden; Anne-Sophie Denommé-Pichon; Dominique Bonneau; Ange-Line Bruel; Julian Delanne; Bénédicte Gérard; Benoît Mazel; Christophe Philippe; Lucile Pinson; Clément Prouteau; Audrey Putoux; Frédéric Tran Mau-Them; Éléonore Viora-Dupont; Antonio Vitobello; Alban Ziegler; Amélie Piton; Bertrand Isidor; Christine Francannet; Pierre-Yves Maillard; Sophie Julia; Anais Philippe; Elise Schaefer; Saskia Koene; Claudia Ruivenkamp; Mariette Hoffer; Eric Legius; Miel Theunis; Boris Keren; Julien Buratti; Perrine Charles; Thomas Courtin; Mala Misra-Isrie; Mieke van Haelst; Quinten Waisfisz; Dagmar Wieczorek; Ariane Schmetz; Theresia Herget; Fanny Kortüm; Jasmin Lisfeld; François-Guillaume Debray; Nuria C. Bramswig; Isis Atallah; Heidi Fodstad; Guillaume Jouret; Berta Almoguera; Saoud Tahsin-Swafiri; Fernando Santos-Simarro; Maria Palomares-Bralo; Vanesa López-González; Maria Kibaek; Pernille M. Tørring; Alessandra Renieri; Lucia Pia Bruno; Katrin Õunap; Monica Wojcik; Tzung-Chien Hsieh; Peter Krawitz; Hilde Van Esch
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S,Bonneau , D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, 'The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468. https://doi.org/10.1038/s41431-023-01307-x
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S,
Academic Journal
Riquin, Kevin; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Colin, Estelle; Bonneau, Dominique; Pasquier, Laurent; Odent, Sylvie; Le Guillou Horn, Xavier Maximin; Guyader, Gwenaël Le; Toutain, Annick; Meyer, Vincent; Deleuze, Jean-François; Pichon, Olivier; Doco-Fenzy, Martine; Bézieau, Stéphane; Cogné, Benjamin
Journal of Medical Genetics. 61:47-56
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
Academic Journal
Rötig, Agnès; Gaignard, Pauline; Barcia, Giulia; Assouline, Zahra; Berat, Claire-Marine; Barth, Magalie; Damaj, Léna; Laborde, Nolwenn; Abi-Warde, Marie-Thérèse; Chabrol, Brigitte; De Lonlay, Pascale; Desguerre, Isabelle; Goldenberg, Alice; Gonzales, Emmanuel; Jacquemin, Emmanuel; Amati -Bonneau, Patrizia; Bonneau, Dominique; Abadie, Véronique; Bonnemains, Chrystèle; Broue, Pierre; de Saint-Martin, Anne; Durand, Philippe; Fouilhoux, Alain; Isidor, Bertrand; Jaroussie, Marianne; Jedraszak, Guillaume; Maurey, Hélène; Mention, Karine; Odent, Sylvie; Pasquier, Laurent; Rougeot-Jung, Christelle; Gitiaux, Cyril; Roux, Charles-Joris; Boddaert, Nathalie; Munnich, Arnold; Schiff, Manuel
Neurol Genet
Academic Journal
Tessarech, Marine ; Friocourt, Gaëlle ; Marguet, Florent ; Lecointre, Maryline ; Le Mao, Morgane ; Díaz, Rodrigo Muñoz ; Mignot, Cyril ; Keren, Boris ; Héron, Bénédicte ; De Bie, Charlotte ; Van Gassen, Koen ; Loisel, Didier ; Delorme, Benoit ; Syrbe, Steffen ; Klabunde-Cherwon, Annick ; Jamra, Rami Abou ; Wegler, Meret ; Callewaert, Bert ; Dheedene, Annelies ; Zidane-Marinnes, Merzouka ; Guichet, Agnès ; Bris, Céline ; Van Bogaert, Patrick ; Biquard, Florence ; Lenaers, Guy ; Marcorelles, Pascale ; Ferec, Claude ; Gonzalez, Bruno ; Procaccio, Vincent ; Vitobello, Antonio ; Bonneau, Dominique ; Laquerriere, Annie ; Khiati, Salim ; Colin, Estelle
In Genetics in Medicine May 2024 26(5)
Conference
Viora-Dupont, Eléonore; Robert, Françoise; Gerard, Bénédicte; Chassagne, Aline; Pélissier, Aurore; Bouctot, Marion; Asensio, Marie‐laure Humbert; Salvi, Dominique; Gauthier, Elodie; Staraci, Stéphanie; Meunier-Beillard, Nicolas; Cadenes, Amandine; Spetchian, Myrtille; Amandine, Baurand; Sawka, Caroline; Bertolone, Geoffrey; Héron, Delphine; Keren, Boris; Sanlaville, Damien; Lesca, Gaëtan; Thauvin-Robinet, Christel; Philippe, Christophe; Odent, Sylvie; Bonneau, Dominique; Lacombe, Didier; Caumes, Roseline; Edery, Patrick; Sigaudy, Sabine; Geneviève, David; Isidor, Bertrand; Nicolas, Gaël; Thevenon, Julien; Lejeune, Catherine; Peyron, Christine; Dollfus, Hélène; Gargiulo, Marcela; Binquet, C; Faivre, Laurence
Academic Journal
Rocatcher, Aude; Desquiret-Dumas, Valérie; Charif, Majida; Ferré, Marc; Gohier, Philippe; Mirebeau-Prunier, Delphine; Verny, Christophe; Milea, Dan; Lenaers, Guy; Vignal, Catherine; Lamirel, Cédric; Hage, Rabih; Dollfus, Hélène; Meunier, Isabelle; Zanlonghi, Xavier; Touitou, Valérie; Lebranchu, Pierre; Odent, Sylvie; Tilikete, Caroline Froment; Jeanjean, Luc; Defoort-Dhellemmes, Sabine; Drumare-Bouvet, Isabelle; Smirnov, Vasily; Vincent-Delorme, Catherine; Biotti, Damien; Varenne, Fanny; Calvas, Patrick; Chassaing, Nicolas; Cohen, Mickael; Orssaud, Christophe; Mochel, Fanny; Roubertie, Agathe; Toutain, Annick; Pollet-Villard, Frédéric; Dupeyron, Marie Noelle Bonnet; Boulicot, Céline; Cochener, Béatrice; Goldenberg, Alice; Jacquemont, Marie Line; Francannet, Christine; Bonneau, Dominique; Reynier, Pascal; Amati-Bonneau, Patrizia
Brain. 146:455-460
Academic Journal
Harion, Madeleine; Qebibo, Leila; Riquet, Audrey; Rougeot, Christelle; Afenjar, Alexandra; Garel, Catherine; Louha, Malek; Lacaze, Emmanuelle; Audic-Gérard, Frédérique; Barth, Magali; Berquin, Patrick; Bonneau, Dominique; Bourdain, Frédéric; Busa, Tiffany; Colin, Estelle; Cuisset, Jean-Marie; Des Portes, Vincent; Dorison, Nathalie; Francannet, Christine; Héron, Bénédicte; Laroche, Cécile; Lebrun, Marine; Métreau, Julia; Odent, Sylvie; Pasquier, Laurent; Trujillo, Yaumara Perdomo; Perrin, Laurine; Pinson, Lucile; Rivier, Francois; Sigaudy, Sabine; Thauvin-Robinet, Christel; Louvier, Ulrike Walther; Labayle, Olivier; Rodriguez, Diana; Valence, Stéphanie; Burglen, Lydie
Journal of Medical Genetics. 60:578-586
Academic Journal
Küry, Sébastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie; Josiah, Sunday; Kiziltug, Emre; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Kundishora, Adam; Hao, Le; Li, Hong; Stevenson, Roger; Louie, Raymond; Deb, Wallid; Torti, Erin; Vignard, Virginie; Mcwalter, Kirsty; Raymond, F Lucy; Rajabi, Farrah; Ranza, Emmanuelle; Grozeva, Detelina; Coury, Stephanie; Blanc, Xavier; Brischoux-Boucher, Elise; Keren, Boris; Õunap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid; Barr, Eileen; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor; Monaghan, Kristin; Rio, Marlène; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy; Wilson, Ashley; Quinquis, Delphine; Bréhéret, Flora; Retterer, Kyle; Lindenbaum, Pierre; Scalais, Emmanuel; Rhodes, Lindsay; Stouffs, Katrien; Pereira, Elaine; Berger, Sara; Milla, Sarah; Jaykumar, Ankita; Cobb, Melanie; Panchagnula, Shreyas; Duy, Phan; Vincent, Marie; Mercier, Sandra; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Audebert-Bellanger, Séverine; Odent, Sylvie; Schmitt, Sébastien; Boisseau, Pierre; Bonneau, Dominique; Toutain, Annick; Colin, Estelle; Pasquier, Laurent; Redon, Richard; Bouman, Arjan; Rosenfeld, Jill; Friez, Michael; Pérez-Peña, Helena; Akhtar Rizvi, Syed Raza; Haider, Shozeb; Antonarakis, Stylianos; Schwartz, Charles; Martínez, Francisco; Bézieau, Stéphane; Kahle, Kristopher; Isidor, Bertrand
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
instname
Academic Journal
Ziegler, Alban; Steindl, Katharina; Hanner, Ashleigh S; Kumar Kar, Rajesh; Prouteau, Clément; Boland, Anne; Deleuze, Jean Francois; Coubes, Christine; Bézieau, Stéphane; Küry, Sébastien; Maystadt, Isabelle; Le Mao, Morgane; Lenaers, Guy; Navet, Benjamin; Faivre, Laurence; Tran Mau-Them, Frédéric; Zanoni, Paolo; Chung, Wendy K; Rauch, Anita; Bonneau, Dominique; Park, Myung Hee
The American Journal of Human Genetics. 109:1549-1558
Academic Journal
Faqeih, Eissa A. ; Alghamdi, Malak Ali ; Almahroos, Marwa A. ; Alharby, Essa ; Almuntashri, Makki ; Alshangiti, Amnah M. ; Clément, Prouteau ; Calame, Daniel G. ; Qebibo, Leila ; Burglen, Lydie ; Doco-Fenzy, Martine ; Mastrangelo, Mario ; Torella, Annalaura ; Manti, Filippo ; Nigro, Vincenzo ; Alban, Ziegler ; Alharbi, Ghadeer Saleh ; Hashmi, Jamil Amjad ; Alraddadi, Rawya ; Alamri, Razan ; Mitani, Tadahiro ; Magalie, Barth ; Coban-Akdemir, Zeynep ; Geckinli, Bilgen Bilge ; Pehlivan, Davut ; Romito, Antonio ; Karageorgou, Vasiliki ; Martini, Javier ; Colin, Estelle ; Bonneau, Dominique ; Bertoli-Avella, Aida ; Lupski, James R. ; Pastore, Annalisa ; Peake, Roy W.A. ; Dallol, Ashraf ; Alfadhel, Majid ; Almontashiri, Naif A.M.
In Genetics in Medicine February 2023 25(2)
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