학술논문
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공정이용 지침
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불공정 이용 사례
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- ID/PW를 타인에게 양도하거나 타인 계정을 도용하여 이용
- EndNote, Mendeley 등 서지관리 프로그램의 Find Full Text 기능을 이용한 대량 다운로드
- 출판사 콘텐츠를 생성형 AI 시스템에서 활용하는 행위(업로드, 개발, 학습, 프로그래밍, 개선 또는 강화 등)
위반 시 제재
- 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
- 출판사 배상 요구 시 위반자 개인이 배상 책임 부담
'학술논문'
에서 검색결과 324건 | 목록
1~20
Academic Journal
Kröll-Hermi, Ariane ; Stoetzel, Corinne ; Etard, Christelle ; Halabelian, Levon ; Schaefer, Elise ; Scheidecker, Sophie ; Kahrizi, Kimia ; Payman, Jamali ; Geoffroy, Véronique ; Prasad, Megana ; Obringer, Cathy ; Ruch, Laurie ; Girard, Amandine ; Zeng, Hong ; Li, Fengling ; Plassard, Damien ; Keime, Céline ; Mattioli, Francesca ; Feger, Claire ; Piton, Amélie ; Fujita, Atsushi ; Matsumoto, Naomichi ; Castro, Matheus Augusto Araujo ; Ae, Kim Chong ; Ruaud, Lyse ; Levy, Jonathan ; Dozières, Blandine ; Tabet, Anne-Claude ; Wentzensen, Ingrid M. ; Santiago-Sim, Teresa ; Yusupov, Roman ; Tveten, Kristian ; Smeland, Marie Falkenberg ; Alkhunaizi, Ebba ; Cowing, Gina ; Li, Chumei ; Wortmann, Saskia B. ; Feichtinger, René G. ; Mayr, Johannes A. ; Gonorazky, Herman ; Jing, Gan ; Wang, Xiaodong ; Wang, Jia ; Bierhals, Tatjana ; Grinstein, Lev ; Herget, Theresia ; Ruiz, Anna ; Gabau, Elisabeth ; Kampmeier, Antje ; Kassel, Olivier ; Kuechler, Alma ; Platzer, Konrad ; Jamra, Rami Abou ; Woerner, Audrey ; Idleburg, Michaela ; Kircher, Susanne Gerit ; Laccone, Franco ; Golob, Barbara ; Peterlin, Borut ; Čuturilo, Goran ; Tasic, Velibor ; Kolvenbach, Caroline M. ; Hildebrandt, Friedhelm ; Ramos, Luiza L.P. ; Kok, Fernando ; Buck, Cecilia Barbosa ; van de Laar, Ingrid M.B.H. ; de Man, Stella A. ; Taşdelen, Elifcan ; Sezer, Abdullah ; Büke, Afife ; Yavuz, Zehra ; Çomoğlu, Selim Selçuk ; Costin, Carrie ; Tran Mau Them, Frédéric ; Lacaze, Elodie ; Courtin, Thomas ; Héron, Delphine ; Keren, Boris ; Whalen, Sandra ; Roume, Joelle ; Yang, Yanzhong ; Hoffer, Mariëtte J.V. ; van Haeringen, Arie ; Najmabadi, Hossein ; Arrowsmith, Cheryl H. ; Strähle, Uwe ; Dollfus, Hélène ; Muller, Jean
In The American Journal of Human Genetics 4 December 2025 112(12):2943-2960
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Kennedy, Jennifer; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Borroto, Maria Carla ; Patel, Heena ; Srivastava, Siddharth ; Swanson, Lindsay C. ; Keren, Boris ; Whalen, Sandra ; Mignot, Cyril ; Wang, Xiaodong ; Chen, Qian ; McLean, Scott ; Littlejohn, Rebecca O. ; Emrick, Lisa ; Attali, Ruben ; Lesca, Gaetan ; Acquaviva-Bourdain, Cecile ; Sarret, Catherine ; Seaver, Laurie H. ; Platzer, Konrad ; Bartolomaeus, Tobias ; Wünsch, Cornelia ; Fischer, Susann ; Rodriguez Barreto, Ana Maria ; Granadillo, Jorge L. ; Schreiner, Elisabeth ; Brunet, Theresa ; Schatz, Ulrich A. ; Thiffault, Isabelle ; Mullegama, Sureni V. ; Michaud, Jacques L. ; Hamdan, Fadi F. ; Rossignol, Elsa ; Campeau, Philippe M.
In Pediatric Neurology November 2024 160:45-53
Academic Journal
Boonsawat, Paranchai ; Asadollahi, Reza ; Niedrist, Dunja ; Steindl, Katharina ; Begemann, Anaïs ; Joset, Pascal ; Bhoj, Elizabeth J. ; Li, Dong ; Zackai, Elaine ; Vetro, Annalisa ; Barba, Carmen ; Guerrini, Renzo ; Whalen, Sandra ; Keren, Boris ; Khan, Amjad ; Jing, Duan ; Palomares Bralo, María ; Rikeros Orozco, Emi ; Hao, Qin ; Schlott Kristiansen, Britta ; Zheng, Bixia ; Donnelly, Deirdre ; Clowes, Virginia ; Zweier, Markus ; Papik, Michael ; Siegel, Gabriele ; Sabatino, Valeria ; Mocera, Martina ; Horn, Anselm H.C. ; Sticht, Heinrich ; Rauch, Anita
In The American Journal of Human Genetics 5 September 2024 111(9):1994-2011
Academic Journal
Lavillaureix, Alinoë ; Rollier, Paul ; Kim, Artem ; Panasenkava, Veranika ; De Tayrac, Marie ; Carré, Wilfrid ; Guyodo, Hélène ; Faoucher, Marie ; Poirel, Elisabeth ; Akloul, Linda ; Quélin, Chloé ; Whalen, Sandra ; Bos, Jessica ; Broekema, Marjoleine ; van Hagen, Johanna M. ; Grand, Katheryn ; Allen-Sharpley, Michelle ; Magness, Emily ; McLean, Scott D. ; Kayserili, Hülya ; Altunoglu, Umut ; En Qi Chong, Angie ; Xue, Shifeng ; Jeanne, Médéric ; Almontashiri, Naif ; Habhab, Wisam ; Vanlerberghe, Clemence ; Faivre, Laurence ; Viora-Dupont, Eléonore ; Philippe, Christophe ; Safraou, Hana ; Laffargue, Fanny ; Mittendorf, Luisa ; Abou Jamra, Rami ; Patil, Siddaramappa Jagdish ; Dalal, Ashwin ; Sarma, Asodu Sandeep ; Keren, Boris ; Reversade, Bruno ; Dubourg, Christèle ; Odent, Sylvie ; Dupé, Valérie
In Genetics in Medicine July 2024 26(7)
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
Smallwood, Kelly ; Watt, Kristin E.N. ; Ide, Satoru ; Baltrunaite, Kristina ; Brunswick, Chad ; Inskeep, Katherine ; Capannari, Corrine ; Adam, Margaret P. ; Begtrup, Amber ; Bertola, Debora R. ; Demmer, Laurie ; Demo, Erin ; Devinsky, Orrin ; Gallagher, Emily R. ; Guillen Sacoto, Maria J. ; Jech, Robert ; Keren, Boris ; Kussmann, Jennifer ; Ladda, Roger ; Lansdon, Lisa A. ; Lunke, Sebastian ; Mardy, Anne ; McWalters, Kirsty ; Person, Richard ; Raiti, Laura ; Saitoh, Noriko ; Saunders, Carol J. ; Schnur, Rhonda ; Skorvanek, Matej ; Sell, Susan L. ; Slavotinek, Anne ; Sullivan, Bonnie R. ; Stark, Zornitza ; Symonds, Joseph D. ; Wenger, Tara ; Weber, Sacha ; Whalen, Sandra ; White, Susan M. ; Winkelmann, Juliane ; Zech, Michael ; Zeidler, Shimriet ; Maeshima, Kazuhiro ; Stottmann, Rolf W. ; Trainor, Paul A. ; Weaver, K. Nicole
In The American Journal of Human Genetics 4 May 2023 110(5):809-825
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. 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In Genetics in Medicine April 2023 25(4)
Academic Journal
Heide, Solveig ; Spentchian, Myrtille ; Valence, Stéphanie ; Buratti, Julien ; Mach, Corinne ; Lejeune, Elodie ; Olin, Valérie ; Massimello, Marta ; Lehalle, Daphné ; Mouthon, Linda ; Whalen, Sandra ; Faudet, Anne ; Mignot, Cyril ; Garel, Catherine ; Blondiaux, Eleonore ; Lefebvre, Mathilde ; Quenum-Miraillet, Geneviève ; Chantot-Bastaraud, Sandra ; Milh, Mathieu ; Bretelle, Florence ; Portes, Vincent des ; Guibaud, Laurent ; Putoux, Audrey ; Tsatsaris, Vassili ; Spodenkiewic, Marta ; Layet, Valérie ; Dard, Rodolphe ; Mandelbrot, Laurent ; Guet, Agnès ; Moutton, Sébastien ; Gorce, Magali ; Nizon, Mathilde ; Vincent, Marie ; Beneteau, Claire ; Rocchisanni, Marie-Amélie ; Benachi, Alexandra ; Saada, Julien ; Attié-Bitach, Tania ; Guilbaud, Lucie ; Maurice, Paul ; Friszer, Stéphanie ; Jouannic, Jean-Marie ; de Villemeur, Thierry Billette ; Moutard, Marie-Laure ; Keren, Boris ; Héron, Delphine
In Genetics in Medicine November 2020 22(11):1887-1891
Academic Journal
Larcher, Lise ; Norris, Joy W. ; Lejeune, Elodie ; Buratti, Julien ; Mignot, Cyril ; Garel, Catherine ; Keren, Boris ; Schwartz, Charles E. ; Whalen, Sandra
In European Journal of Medical Genetics April 2020 63(4)
Academic Journal
Aref-Eshghi, Erfan ; Kerkhof, Jennifer ; Pedro, Victor P. ; Barat-Houari, Mouna ; Ruiz-Pallares, Nathalie ; Andrau, Jean-Christophe ; Lacombe, Didier ; Van-Gils, Julien ; Fergelot, Patricia ; Dubourg, Christèle ; Cormier-Daire, Valerie ; Rondeau, Sophie ; Lecoquierre, François ; Saugier-Veber, Pascale ; Nicolas, Gaël ; Lesca, Gaetan ; Chatron, Nicolas ; Sanlaville, Damien ; Vitobello, Antonio ; Faivre, Laurence ; Thauvin-Robinet, Christel ; Laumonnier, Frederic ; Raynaud, Martine ; Alders, Mariëlle ; Mannens, Marcel ; Henneman, Peter ; Hennekam, Raoul C. ; Velasco, Guillaume ; Francastel, Claire ; Ulveling, Damien ; Ciolfi, Andrea ; Pizzi, Simone ; Tartaglia, Marco ; Heide, Solveig ; Héron, Delphine ; Mignot, Cyril ; Keren, Boris ; Whalen, Sandra ; Afenjar, Alexandra ; Bienvenu, Thierry ; Campeau, Philippe M. ; Rousseau, Justine ; Levy, Michael A. ; Brick, Lauren ; Kozenko, Mariya ; Balci, Tugce B. ; Siu, Victoria Mok ; Stuart, Alan ; Kadour, Mike ; Masters, Jennifer ; Takano, Kyoko ; Kleefstra, Tjitske ; de Leeuw, Nicole ; Field, Michael ; Shaw, Marie ; Gecz, Jozef ; Ainsworth, Peter J. ; Lin, Hanxin ; Rodenhiser, David I. ; Friez, Michael J. ; Tedder, Matt ; Lee, Jennifer A. ; DuPont, Barbara R. ; Stevenson, Roger E. ; Skinner, Steven A. ; Schwartz, Charles E. ; Genevieve, David ; Sadikovic, Bekim
In The American Journal of Human Genetics 5 March 2020 106(3):356-370
Academic Journal
Weiss, Karin ; Lazar, Hayley P. ; Kurolap, Alina ; Martinez, Ariel F. ; Paperna, Tamar ; Cohen, Lior ; Smeland, Marie F. ; Whalen, Sandra ; Heide, Solveig ; Keren, Boris ; Terhal, Pauline ; Irving, Melita ; Takaku, Motoki ; Roberts, John D. ; Petrovich, Robert M. ; Schrier Vergano, Samantha A. ; Kenney, Amy ; Hove, Hanne ; DeChene, Elizabeth ; Quinonez, Shane C. ; Colin, Estelle ; Ziegler, Alban ; Rumple, Melissa ; Jain, Mahim ; Monteil, Danielle ; Roeder, Elizabeth R. ; Nugent, Kimberly ; van Haeringen, Arie ; Gambello, Michael ; Santani, Avni ; Medne, Līvija ; Krock, Bryan ; Skraban, Cara M. ; Zackai, Elaine H. ; Dubbs, Holly A. ; Smol, Thomas ; Ghoumid, Jamal ; Parker, Michael J. ; Wright, Michael ; Turnpenny, Peter ; Clayton-Smith, Jill ; Metcalfe, Kay ; Kurumizaka, Hitoshi ; Gelb, Bruce D. ; Baris Feldman, Hagit ; Campeau, Philippe M. ; Muenke, Maximilian ; Wade, Paul A. ; Lachlan, Katherine
In Genetics in Medicine February 2020 22(2):389-397
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Margot, Henri ; Boursier, Guilaine ; Duflos, Claire ; Sanchez, Elodie ; Amiel, Jeanne ; Andrau, Jean-Christophe ; Arpin, Stéphanie ; Brischoux-Boucher, Elise ; Boute, Odile ; Burglen, Lydie ; Caille, Charlotte ; Capri, Yline ; Collignon, Patrick ; Conrad, Solène ; Cormier-Daire, Valérie ; Delplancq, Geoffroy ; Dieterich, Klaus ; Dollfus, Hélène ; Fradin, Mélanie ; Faivre, Laurence ; Fernandes, Helder ; Francannet, Christine ; Gatinois, Vincent ; Gerard, Marion ; Goldenberg, Alice ; Ghoumid, Jamal ; Grotto, Sarah ; Guerrot, Anne-Marie ; Guichet, Agnès ; Isidor, Bertrand ; Jacquemont, Marie-Line ; Julia, Sophie ; Khau Van Kien, Philippe ; Legendre, Marine ; Le Quan Sang, K.H. ; Leheup, Bruno ; Lyonnet, Stanislas ; Magry, Virginie ; Manouvrier, Sylvie ; Martin, Dominique ; Morel, Godelieve ; Munnich, Arnold ; Naudion, Sophie ; Odent, Sylvie ; Perrin, Laurence ; Petit, Florence ; Philip, Nicole ; Rio, Marlène ; Robbe, Julie ; Rossi, Massimiliano ; Sarrazin, Elisabeth ; Toutain, Annick ; Van Gils, Julien ; Vera, Gabriella ; Verloes, Alain ; Weber, Sacha ; Whalen, Sandra ; Sanlaville, Damien ; Lacombe, Didier ; Aladjidi, Nathalie ; Geneviève, David
In Genetics in Medicine January 2020 22(1):181-188
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Torti, Erin ; Keren, Boris ; Palmer, Elizabeth E. ; Zhu, Zehua ; Afenjar, Alexandra ; Anderson, Ilse. J. ; Andrews, Marisa V. ; Atkinson, Celia ; Au, Margaret ; Berry, Susan A. ; Bowling, Kevin M. ; Boyle, Jackie ; Buratti, Julien ; Cathey, Sara S. ; Charles, Perrine ; Cogne, Benjamin ; Courtin, Thomas ; Escobar, Luis F. ; Finley, Sabra Ledare ; Graham, John M., Jr. ; Grange, Dorothy K. ; Heron, Delphine ; Hewson, Stacy ; Hiatt, Susan M. ; Hibbs, Kathleen A. ; Jayakar, Parul ; Kalsner, Louisa ; Larcher, Lise ; Lesca, Gaetan ; Mark, Paul R. ; Miller, Kathryn ; Nava, Caroline ; Nizon, Mathilde ; Pai, G. Shashidhar ; Pappas, John ; Parsons, Gretchen ; Payne, Katelyn ; Putoux, Audrey ; Rabin, Rachel ; Sabatier, Isabelle ; Shinawi, Marwan ; Shur, Natasha ; Skinner, Steven A. ; Valence, Stephanie ; Warren, Hannah ; Whalen, Sandra ; Crunk, Amy ; Douglas, Ganka ; Monaghan, Kristin G. ; Person, Richard E. ; Willaert, Rebecca ; Solomon, Benjamin D. ; Juusola, Jane
In Genetics in Medicine September 2019 21(9):2036-2042
Academic Journal
Marzin, Pauline ; Mignot, Cyril ; Dorison, Nathalie ; Dufour, Louis ; Ville, Dorothée ; Kaminska, Anna ; Panagiotakaki, Eleni ; Dienpendaele, Anne-Sophie ; Penniello, Marie-José ; Nougues, Marie-Christine ; Keren, Boris ; Depienne, Christel ; Nava, Caroline ; Milh, Mathieu ; Villard, Laurent ; Richelme, Christian ; Rivier, Clotilde ; Whalen, Sandra ; Heron, Delphine ; Lesca, Gaëtan ; Doummar, Diane
In Brain and Development October 2018 40(9):768-774
Academic Journal
Michaud, Vincent; Sequeira, Angèle; Mercier, Elina; Lasseaux, Eulalie; Plaisant, Claudio; Hadj‐Rabia, Smail; Whalen, Sandra; Bonneau, Dominique; Dieux‐Coeslier, Anne; Morice‐Picard, Fanny; Coursimault, Juliette; Arveiler, Benoît; Javerzat, Sophie
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Kuentz, Paul ; St-Onge, Judith ; Duffourd, Yannis ; Courcet, Jean-Benoît ; Carmignac, Virginie ; Jouan, Thibaud ; Sorlin, Arthur ; Abasq-Thomas, Claire ; Albuisson, Juliette ; Amiel, Jeanne ; Amram, Daniel ; Arpin, Stéphanie ; Attie-Bitach, Tania ; Bahi-Buisson, Nadia ; Barbarot, Sébastien ; Baujat, Geneviève ; Bessis, Didier ; Boccara, Olivia ; Bonnière, Maryse ; Boute, Odile ; Bursztejn, Anne-Claire ; Chiaverini, Christine ; Cormier-Daire, Valérie ; Coubes, Christine ; Delobel, Bruno ; Edery, Patrick ; Chehadeh, Salima El ; Francannet, Christine ; Geneviève, David ; Goldenberg, Alice ; Haye, Damien ; Isidor, Bertrand ; Jacquemont, Marie-Line ; Khau Van Kien, Philippe ; Lacombe, Didier ; Martin, Ludovic ; Martinovic, Jelena ; Maruani, Annabel ; Mathieu-Dramard, Michèle ; Mazereeuw-Hautier, Juliette ; Michot, Caroline ; Mignot, Cyril ; Miquel, Juliette ; Morice-Picard, Fanny ; Petit, Florence ; Phan, Alice ; Rossi, Massimiliano ; Touraine, Renaud ; Verloes, Alain ; Vincent, Marie ; Vincent-Delorme, Catherine ; Whalen, Sandra ; Willems, Marjolaine ; Marle, Nathalie ; Lehalle, Daphné ; Thevenon, Julien ; Thauvin-Robinet, Christel ; Hadj-Rabia, Smaïl ; Faivre, Laurence ; Vabres, Pierre ; Rivière, Jean-Baptiste
In Genetics in Medicine September 2017 19(9):989-997
Academic Journal
Heide, Solveig ; Keren, Boris ; Billette de Villemeur, Thierry ; Chantot-Bastaraud, Sandra ; Depienne, Christel ; Nava, Caroline ; Mignot, Cyril ; Jacquette, Aurélia ; Fonteneau, Eric ; Lejeune, Elodie ; Mach, Corinne ; Marey, Isabelle ; Whalen, Sandra ; Lacombe, Didier ; Naudion, Sophie ; Rooryck, Caroline ; Toutain, Annick ; Caignec, Cédric Le ; Haye, Damien ; Olivier-Faivre, Laurence ; Masurel-Paulet, Alice ; Thauvin-Robinet, Christel ; Lesne, Fabien ; Faudet, Anne ; Ville, Dorothée ; des Portes, Vincent ; Sanlaville, Damien ; Siffroi, Jean-Pierre ; Moutard, Marie-Laure ; Héron, Delphine
In The Journal of Pediatrics June 2017 185:160-166
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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; Barth, Magalie; Colin, Estelle; Halleb, Yosra; Houdayer, Clara; Prouteau, Clément; Tessarech, Marine; Ziegler, Alban; Angelini, Chloé; Baudier, Marie-Pierre; Britel, Meryem; Bronnec, Noémie; Deiber, Clémence; Dorian, Virginie; Gaudry, Juliette; Goizet, Cyril; Hairech, Nawel; Hasnaoui, Ouidad; Laurent, Manon; Legendre, Marine; Naudion, Sophie; Ngom, Ndeye-Fatou; Thambo, Caroline Rooryck; Van Gils, Julien; Zordan, Cécile; Borel, Myriam; Briffaut, Anne-Sophie; Viard, Charley Robert; Bacq-Daian, Delphine; Besse, Celine; Fin, Bertrand; Meyer, Vincent; Moutet, Marie-Laure; Olaso, Robert; Sandron, Florian; Turon, Violette; Bernard, Celine; Bournez, Marie; Bruel, Ange-Line; Viora-Dupont, Eleonore; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Duquet, Romain; Espitalier, Aurelie; Fauconnier-Fatus, Clemence; Nambot, Sophie; Petiot, Aurore; Pillay, Victor; Poe, Charlotte; Soto, Melodie; Thauvin, Christel; Tharreau, Mylene; Vitobello, Antonio; Gauthier, Marjolaine; Nguyen Morel, Marie-Ange; Nugues, Frederique; Wyrebski, Antoine; Dieterich, Klaus; Le Tanno, Pauline; Bellengier, Laurence; Boute, Odile; Colson, Cindy; Dieux, Anne; Ghoumid, Jamal; Marsili, Luisa; Petit, Florence; Rubeck, Coralie; Vanlerberghe, Clemence; Vincent-Delorme, Catherine; Rougeot-Jung, Christelle; Curie, Aurore; des Portes, Vincent; Goutte, Sylvie; Haye, Damien; Labalme, Audrey; Monin, Pauline; Till, Marianne; Armand, Thibaud; Reversat, Julie; Robert, Françoise; Berthiot, Amelie; Colard, Marion; El Amrani-El Idrissi, Lamia; Francois, Tiphaine; George, Haymanot; Saidi, Manel; Rendja, Karima; Triguel, Iracema; Bardel, Claire; Rollat-Farnier, Pierre Antoine; Putoux, Audrey; Rossi, Massimiliano; Pons, Linda; Consolino, Emilie; Glazunova, Olga; Mallet, Audrey; Philip-Sarles, Nicole; Riccardi, Florence; Seror, Valerie; Beltram, Severine; Cerret, Florent; Crantelle, Laura; Khalil, Mirna; Blanchet, Patricia; Deiller, Caroline; Haquet, Emmanuelle; Pinson, Lucile; Wells, Constance; Guillemin, Francis; Conrad, Solene; Guyon, Laura; Mercier, Sandra; Nizon, Mathilde; Voisine, Annastasia; Abdallah, Kahina; Amiel, Jeanne; Baujat, Genevieve; Bhia, Wiam; Bonnefont, Jean-Paul; Cormier-Daire, Valerie; De Nadai, Narimene; Florentino, Valeria; Gouvenot, Kelly; Guimier, Anne; Abdallah, Hamza Hadj; Jeannette, Jerome; Marlin, Sandrine; Masson, Cecile; Michot, Caroline; Peroni, Lea; Romana, Serge; Afenjar, Alexandra; Burglen, Lydie; Whalen, Sandra; Buratti, Julien; Leguern, Eric; Faudet, Anne; Gerasimenko, Anna; Moukossi-Mouelle, Caroline; Mouthon, Linda; Pellen, Anne-Sophie; Staraci, Stephanie; Lehalle, Daphne; Esperou, Helene; Le Mestre, Soizic; Levy-Marchal, Claire; Carre, Wilfrid; De Tayrac, Marie; Dubourg, Christele; Fournier, Chloé; Akloul, Linda; Fradin, Melanie; Jean-Marcais, Nolwenn; Lavillaureix, Alinoë; Morel, Godelieve; Pasquier, Laurent; Poirel, Elisabeth; Riou, Audrey; Rollier, Paul; Brehin, Anne-Claire; Chambon, Pascal; Gonde, Delphine; Joly-Helas, Geraldine; Calmels, Nadege; Cuny, Celine; Feger, Claire; Durand, Benjamin; Goetz, Nathalie; Maillard, Pierre-Yves; Monduc, Sophie; Schaefer, Elise; Scheidecker, Sophie; Muller, Jean; Piton, Amelie
Genome Medicine. October 3, 2025, Vol. 17 Issue 1
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
Mignot, Cyril ; Héron, Delphine ; Bursztyn, Joseph ; Momtchilova, Marta ; Mayer, Michèle ; Whalen, Sandra ; Legall, Anne ; Billette de Villemeur, Thierry ; Burglen, Lydie
In Brain and Development February 2013 35(2):172-176
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