학술논문
'학술논문'
에서 검색결과 384건 | 목록
1~10
Academic Journal
Viora-Dupont, Eléonore; Robert, Françoise; Chassagne, Aline; Pélissier, Aurore; Staraci, Stéphanie; Sanlaville, Damien; Edery, Patrick; Lesca, Gaetan; Putoux, Audrey; Pons, Linda; Cadenes, Amandine; Baurand, Amandine; Sawka, Caroline; Bertolone, Geoffrey; Spetchian, Myrtille; Yousfi, Meriem; Salvi, Dominique; Gautier, Elodie; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Bruel, Ange-Line; Tran Mau-Them, Frédéric; Faudet, Anne; Keren, Boris; Labalme, Audrey; Chatron, Nicolas; Abel, Carine; Dupuis-Girod, Sophie; Poisson, Alice; Buratti, Julien; Mignot, Cyril; Afenjar, Alexandra; Whalen, Sandra; Charles, Perrine; Heide, Solveig; Mouthon, Linda; Moutton, Sébastien; Sorlin, Arthur; Nambot, Sophie; Briffaut, Anne-Sophie; Asensio, Marie-Laure; Philippe, Christophe; Thauvin-Robinet, Christel; Héron, Delphine; Rossi, Massimiliano; Meunier-Bellard, Nicolas; Gargiulo, Marcela; Peyron, Christine; Binquet, Christine; Faivre, Laurence
European Journal of Human Genetics. 32(9):1166-1183
Academic Journal
Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal; Cabrol, Christelle; Cilio, Maria; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette
European Journal of Human Genetics. 31(9)
Academic Journal
Courraud, Jérémie; Engel, Camille; Quartier, Angélique; Drouot, Nathalie; Houessou, Ursula; Plassard, Damien; Sorlin, Arthur; Brischoux-Boucher, Elise; Gouy, Evan; Van Maldergem, Lionel; Rossi, Massimiliano; Lesca, Gaetan; Edery, Patrick; Putoux, Audrey; Bilan, Frederic; Gilbert-Dussardier, Brigitte; Atallah, Isis; Kalscheuer, Vera M.; Mandel, Jean-Louis; Piton, Amélie
Molecular Psychiatry. 29(2):287-296
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 Tran; Trimouille, Aurélien; Van Gils, Julien; Vanlerberghe, Clémence; Vantalon, Valérie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille
European Journal of Human Genetics. 32(2):190-199
Academic Journal
Schmetz, Ariane; Lüdecke, Hermann-Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange-Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina-Solà, Marta; Colson, Cindy; Cuscó, Ivon; Denommé-Pichon, Anne-Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung-Chien; Hustinx, Alexander; Kleinendorst, Lotte; Knopp, Cordula; Kraft, Florian; Krawitz, Peter M.; Lasa-Aranzasti, Amaia; Lesca, Gaetan; López-González, Vanesa; Maraval, Julien; Mignot, Cyril; Neuhann, Teresa; Netzer, Christian; Oehl-Jaschkowitz, Barbara; Petit, Florence; Philippe, Christophe; Posmyk, Renata; Putoux, Audrey; Reis, André; Sánchez-Soler, María José; Suh, Julia; Tkemaladze, Tinatin; Tran Mau Them, Frédéric; Travessa, André; Trujillano, Laura; Valenzuela, Irene; van Haelst, Mieke M.; Vasileiou, Georgia; Vincent-Delorme, Catherine; Walther, Mona; Verde, Pablo; Bramswig, Nuria C.; Wieczorek, Dagmar
Human Genetics. 143(1):71-84
Academic Journal
Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J.M.; de Vries, Bert B.A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W.E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M.L.; van Gassen, Koen L.I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E.L.M.; Shinkai, Yoichi; Kleefstra, Tjitske
In The American Journal of Human Genetics 8 August 2024 111(8):1605-1625
Academic Journal
Haghshenas, Sadegheh; Putoux, Audrey; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Ghosh, Sourav; Kerkhof, Jennifer; McConkey, Haley; Edery, Patrick; Lesca, Gaetan; Besson, Alicia; Coubes, Christine; Willems, Marjolaine; Ruiz-Pallares, Nathalie; Barat-Houari, Mouna; Tizzano, Eduardo F.; Valenzuela, Irene; Sabbagh, Quentin; Clayton-Smith, Jill; Jackson, Adam; O’Sullivan, James; Bromley, Rebecca; Banka, Siddharth; Genevieve, David; Sadikovic, Bekim
In Genetics in Medicine October 2024 26(10)
Academic Journal
P.J. van der Sluijs; M. Gösgens; A.J.M. Dingemans; P. Striano; A. Riva; C. Mignot; A. Faudet; G. Vasileiou; M. Walther; S.A. Schrier Vergano; M. Alders; F.S. Alkuraya; I. Alorainy; H.S. Alsaif; B. Anderlid; I. Bache; I. van Beek; M. Blanluet; B.W. van Bon; T. Brunet; H. Brunner; M.L. Carriero; P. Charles; N. Chatron; E. Coccia; C. Dubourg; R.K. Earl; E.E. Eichler; L. Faivre; N. Foulds; C. Graziano; A.M. Guerrot; M.O. Hashem; S. Heide; D. Heron; S.E. Hickey; S.M.J. Hopman; A. Kattentidt-Mouravieva; J. Kerkhof; J.S. Klein Wassink-Ruiter; E.C. Kurtz-Nelson; K. Kušíková; M. Kvarnung; F. Lecoquierre; G.S. Leszinski; L. Loberti; P.L. Magoulas; F. Mari; I. Maystadt; G. Merla; J.M. Milunsky; S. Moortgat; G. Nicolas; M.O.’ Leary; S. Odent; J.R. Ozmore; K. Parbhoo; R. Pfundt; M. Piccione; A.M. Pinto; B. Popp; A. Putoux; H.L. Rehm; A. Reis; A. Renieri; J.A. Rosenfeld; M. Rossi; E. Salzano; P. Saugier-Veber; M. Seri; G. Severi; F.M. Sonmez; G. Strobl-Wildemann; K.E. Stuurman; E. Uctepe; H. Van Esch; G. Vitetta; B.B.A. de Vries; D. Wahl; T. Wang; P. Zacher; K.R. Heitink; F.G. Ropers; D. Steenbeek; T. Rybak; G.W.E. Santen
Genetics in Medicine Open, Vol 2, Iss , Pp 101873- (2024)
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; Delahaye‐Duriez, Andrée; Doco, Martine; Dufour, William; Durand, Benjamin; Engel, Camille; Faivre, Laurence; Ferroul, Fanny; Fradin, Mélanie; Frenkiel, Hélène; Fusco, Carlo; Garavelli, Livia; Garde, Aurore; Gerard, Bénédicte; Germanaud, David; Goujon, Louise; Gouronc, Aurélie; Ginglinger, Emmanuelle; Goldenberg, Alice; Hancarova, Miroslava; Havlovicová, Markéta; Heron, Delphine; Isidor, Bertrand; Marçais, Nolwenn Jean; Keren, Boris; Koch‐Hogrebe, Margarete; Kuentz, Paul; Lamure, Victoria; Lebre, Anne‐Sophie; Lecoquierre, François; Lehman, Natacha; Lesca, Gaetan; Lyonnet, Stanislas; Martin, Delphine; Mignot, Cyril; Neuhann, Teresa M.; Nicolas, Gaël; Nizon, Mathilde; Petit, Florence; Philippe, Christophe; Piton, Amélie; Pollazzon, Marzia; Prchalová, Darina; Putoux, Audrey; Rio, Marlène; Rondeau, Sophie; Rossi, Massimiliano; Sabbagh, Quentin; Saugier‐Veber, Pascale; Schmetz, Ariane; Steffann, Julie; Thauvin‐Robinet, Christel; Toutain, Annick; Them, Frederic Tran Mau; Trimarchi, Gabriele; Vincent, Marie; Vlčková, Markéta; Wieczorek, Dagmar; Willems, Marjolaine; Yauy, Kevin; Zelinová, Michaela; Ziegler, Alban; Chaumette, Boris; Sadikovic, Bekim; Mandel, Jean‐Louis; Geneviève, David
Molecular Genetics & Genomic Medicine. January 2024, Vol. 12 Issue 1
Academic Journal
Aerden, Mio; Denommé-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gérard, Bénédicte; Mazel, Benoît; Philippe, Christophe; Pinson, Lucile; Prouteau, Clément; Putoux, Audrey; Tran Mau-Them, Frédéric; Viora-Dupont, Éléonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amélie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortüm, Fanny; Lisfeld, Jasmin; Debray, François-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; López-González, Vanesa; Kibaek, Maria; Tørring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Õunap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde
European Journal of Human Genetics. 31(4):461-468
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