학술논문
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'학술논문'
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1~20
Academic Journal
Xiaoxia Peng; Xiangbin Jia; Hanying Wang; Jingjing Chen; Xiaolei Zhang; Senwei Tan; Xinyu Duan; Can Qiu; Mengyuan Hu; Haiyan Hou; Ilaria Parenti; Alma Kuechler; Frank J. Kaiser; Alicia Renck; Raymond Caylor; Cindy Skinner; Joseph Peeden; Benjamin Cogne; Bertrand Isidor; Sandra Mercier; Gael Nicolas; Anne-Marie Guerrot; Flavio Faletra; Luciana Musante; Lior Cohen; Gaber Bergant; Goran Čuturilo; Borut Peterlin; Andrea Seeley; Kristine Bachman; Julian A. Martinez-Agosto; Conny van Ravenswaaij-Arts; Dennis Bos; Katherine H. Kim; Tobias Bartolomaeus; Zelia Schmederer; Rami Abou Jamra; Erfan Aref-Eshghi; Wenjing Zhao; Yongyi Zou; Zhengmao Hu; Qian Pan; Faxiang Li; Guodong Chen; Jiada Li; Zhangxue Hu; Kun Xia; Jieqiong Tan; Hui Guo
Journal of Clinical Investigation.
Academic Journal
Schoen, Michael; Lapunzina, Pablo; Mattina, Teresa; Gunnarsson, Cecilia, 1970; Hadzsiev, Kinga; Verpelli, Chiara; Bourgeron, Thomas; Jesse, Sarah; Van Ravenswaaij-Arts, Conny M. A.; the European Phelan-McDermid syndrome consortium; Hennekam, Raoul C.
European Journal of Medical Genetics. 66(7)
Academic Journal
Eleana Rraku; Aafke Engwerda; Tyler D. Medina; Morris A. Swertz; Lennart F. Johansson; Conny M. A. van Ravenswaaij‐Arts; Imke Christiaans
American Journal of Medical Genetics Part A. 197
Academic Journal
Rraku, Eleana; Medina, Tyler D.; van Ravenswaaij-Arts, Conny M. A.; Slofstra, Mariska K.; Swertz, Morris A.; Dijkhuizen, Trijnie; Johansson, Lennart F.; Engwerda, Aafke
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M. ; Levy, Michael A. ; Kerkhof, Jennifer ; Bhai, Pratibha ; McConkey, Haley ; Jenkins, Zandra A. ; Williams, Ella M. ; Halliday, Benjamin J. ; Huisman, Sylvia A. ; Lauffer, Peter ; de Waard, Vivian ; Witteveen, Laura ; Banka, Siddharth ; Brady, Angela F. ; Hurst, Anna C.E. ; Kaiser, Frank J. ; Lacombe, Didier ; Martinez-Monseny, Antonio F. ; Fergelot, Patricia ; Monteiro, Fabíola P. ; Parenti, Ilaria ; Santos-Simarro, Fernando ; Simpson, Brittany N. ; Alders, Mariëlle ; Robertson, Stephen P. ; Sadikovic, Bekim ; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
Levitin, Maria; Rawlins, Lettie; Sanchez-Andrade, Gabriela; Arshad, Osama; Collins, Stephan; Sawiak, Stephen; Iffland, Phillip; Andersson, Malin; Bupp, Caleb; Cambridge, Emma; Coomber, Eve; Ellis, Ian; Herkert, Johanna; Ironfield, Holly; Jory, Logan; Kretz, Perrine; Kant, Sarina; Neaverson, Alexandra; Nibbeling, Esther; Rowley, Christine; Relton, Emily; Sanderson, Mark; Scott, Ethan; Stewart, Helen; Shuen, Andrew; Schreiber, John; Tuck, Liz; Tonks, James; Terkelsen, Thorkild; van Ravenswaaij-Arts, Conny; Vasudevan, Pradeep; Wenger, Olivia; Wright, Michael; Day, Andrew; Hunter, Adam; Patel, Minal; Lelliott, Christopher; Crino, Peter; Yalcin, Binnaz; Crosby, Andrew; Baple, Emma; Logan, Darren; Hurles, Matthew; Gerety, Sebastian
Brain
Levitin, M O, Rawlins, L E, Sanchez-Andrade, G, Arshad, O A, Collins, S C, Sawiak, S J, Iffland, P H, Andersson, M H L, Bupp, C, Cambridge, E L, Coomber, E L, Ellis, I, Herkert, J C, Ironfield, H, Jory, L, Kretz, P F, Kant, S G, Neaverson, A, Nibbeling, E, Rowley, C, Relton, E, Sanderson, M, Scott, E M, Stewart, H, Shuen, A Y, Schreiber, J, Tuck, L, Tonks, J, Terkelsen, T,van Ravenswaaij -Arts , C, Vasudevan, P, Wenger, O, Wright, M, Day, A, Hunter, A, Patel, M, Lelliott, C J, Crino, P B, Yalcin, B, Crosby, A, Baple, E L, Logan, D W, Hurles, M E & Gerety, S S 2023, 'Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes', Brain, vol. 146, no. 11, pp. 4766-4783. https://doi.org/10.1093/brain/awad231
Levitin, M O, Rawlins, L E, Sanchez-Andrade, G, Arshad, O A, Collins, S C, Sawiak, S J, Iffland, P H, Andersson, M H L, Bupp, C, Cambridge, E L, Coomber, E L, Ellis, I, Herkert, J C, Ironfield, H, Jory, L, Kretz, P F, Kant, S G, Neaverson, A, Nibbeling, E, Rowley, C, Relton, E, Sanderson, M, Scott, E M, Stewart, H, Shuen, A Y, Schreiber, J, Tuck, L, Tonks, J, Terkelsen, T,
Academic Journal
Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor ; Dingemans, Alexander J.M. ; Joss, Shelagh ; Foulds, Nicola ; Jones, Elizabeth A. ; Stewart, Sarah ; Vasudevan, Pradeep ; Dabir, Tabib ; Park, Soo-Mi ; Jewell, Rosalyn ; Brown, Natasha ; Pais, Lynn ; Jacquemont, Sébastien ; Jizi, Khadijé ; Ravenswaaij-Arts, Conny M.A. van ; Kroes, Hester Y. ; Stumpel, Constance T.R. M. ; Ockeloen, Charlotte W. ; Diets, Illja J. ; Nizon, Mathilde ; Vincent, Marie ; Cogné, Benjamin ; Besnard, Thomas ; Kambouris, Marios ; Anderson, Emily ; Zackai, Elaine H. ; McDougall, Carey ; Donoghue, Sarah ; O'Donnell-Luria, Anne ; Valivullah, Zaheer ; O'Leary, Melanie ; Srivastava, Siddharth ; Byers, Heather ; Leslie, Nancy ; Mazzola, Sarah ; Tiller, George E. ; Vera, Moin ; Shen, Joseph J. ; Boles, Richard ; Jain, Vani ; Brischoux-Boucher, Elise ; Kinning, Esther ; Simpson, Brittany N. ; Giltay, Jacques C. ; Harris, Jacqueline ; Keren, Boris ; Guimier, Anne ; Marijon, Pierre ; Vries, Bert B.A. de ; Motter, Constance S. ; Mendelsohn, Bryce A. ; Coffino, Samantha ; Gerkes, Erica H. ; Afenjar, Alexandra ; Visconti, Paola ; Bacchelli, Elena ; Maestrini, Elena ; Delahaye-Duriez, Andree ; Gooch, Catherine ; Hendriks, Yvonne ; Adams, Hieab ; Thauvin-Robinet, Christel ; Josephi-Taylor, Sarah ; Bertoli, Marta ; Parker, Michael J. ; Rutten, Julie W. ; Caluseriu, Oana ; Vernon, Hilary J. ; Kaziyev, Jonah ; Zhu, Jia ; Kremen, Jessica ; Frazier, Zoe ; Osika, Hailey ; Breault, David ; Nair, Sreelata ; Lewis, Suzanne M.E. ; Ceroni, Fabiola ; Viggiano, Marta ; Posar, Annio ; Brittain, Helen ; Giovanna, Traficante ; Giulia, Gori ; Quteineh, Lina ; Ha-Vinh Leuchter, Russia ; Zonneveld-Huijssoon, Evelien ; Mellado, Cecilia ; Marey, Isabelle ; Coudert, Alicia ; Aracena Alvarez, Mariana Inés ; Kennis, Milou G.P. ; Bouman, Arianne ; Roifman, Maian ; Amorós Rodríguez, María Inmaculada ; Ortigoza-Escobar, Juan Dario ; Vernimmen, Vivian ; Sinnema, Margje ; Pfundt, Rolph ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kleefstra, Tjitske ; Weksberg, Rosanna ; Banka, Siddharth
In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642
Academic Journal
Gaasterland, C.M.W. ; Klein Haneveld, M.J. ; Vyshka, Klea; Hugon, A.; van Eeghen, A.M. ; Alhambra, Norma ; Anderlid, Britt-Marie ; Andres, Stephanie ; Aten, Emmelien ; Guedes, Rui Barbosa ; Bonaglia, Maria C. ; Bourgeron, Thomas ; Burdeus-Olavarrieta, Monica ; Carbin, Maya J. ; Cooke, Jennifer ; Damstra, Robert J. ; de Coo, Irenaeus F.M. ; Di Domenico, Stella ; Evans, D. Gareth ; Fernández-Fructuoso, José Ramón ; Grabrucker, Andreas M. ; Gunnarson, Cecilia ; Hadzsiev, Kinga ; Hennekam, Raoul C. ; Jesse, Sarah ; Kant, Sarina G. ; Koza, Sylvia A. ; Kuiper, Els ; Landlust, Annemiek M. ; Lapunzina, Pablo ; Loth, Eva ; Mansour, Sahar ; Maruani, Anna ; Mattina, Teresa ; Matulevičienė, Aušra ; Nevado, Julián ; Parker, Susanne ; Robert, Sandra ; Sala, Carlo ; San José Cáceres, Antonia ; Schön, Michael ; Šiaurytė, Kamilė ; Stemkens, Daphne ; Stiefsohn, Dominique ; Swillen, Ann ; Tabet, Anne C. ; Toro, Roberto ; Turner, Alison ; van Balkom, Ingrid D.C. ; van Buggenhout, Griet ; van Eeghen, Agnies M. ; van Ravenswaaij-Arts, Conny M.A. ; van Weering, Sabrina ; Verpelli, Chiara ; Vignes, Stephane ; Vogels, Annick ; Walinga, Margreet ; Stemkens, D. ; Maruani, A. ; Hadzsiev, K. ; van Balkom, I.D.C.
In European Journal of Medical Genetics July 2023 66(7)
Academic Journal
Landlust, Annemiek M. ; Koza, Sylvia A. ; Carbin, Maya ; Walinga, Margreet ; Robert, Sandra ; Cooke, Jennifer ; Vyshka, Klea ; van Balkom, Ingrid D.C. ; van Ravenswaaij-Arts, Conny
In European Journal of Medical Genetics July 2023 66(7)
Academic Journal
Aafke Engwerda; Kristin M. Abbott; Marrit M. Hitzert; Conny M. A. van Ravenswaaij-Arts; Wilhelmina S. Kerstjens-Frederikse
European Journal of Human Genetics. 31:138-141
Academic Journal
Ufartes, Roser; Grün, Regina; Salinas, Gabriela; Sitte, Maren; Kahl, Fritz; Wong, Monica T Y; van Ravenswaaij-Arts, Conny M A; Pauli, Silke
Human Molecular Genetics. 30:2215-2224
Academic Journal
Koza, Sylvia A. ; Tabet, Anne C. ; Bonaglia, Maria C. ; Andres, Stephanie ; Anderlid, Britt-Marie. ; Aten, Emmelien ; Stiefsohn, Dominique ; Evans, D. Gareth ; van Ravenswaaij-Arts, Conny M.A. ; Kant, Sarina G.
In European Journal of Medical Genetics July 2023 66(7)
Academic Journal
In European Journal of Medical Genetics June 2023 66(6)
Academic Journal
Aafke Engwerda; Erika K. S. M. Leenders; Barbara Frentz; Paulien A. Terhal; Katharina Löhner; Bert B. A. de Vries; Trijnie Dijkhuizen; Yvonne J. Vos; Tuula Rinne; Maarten P. van den Berg; Marc T. R. Roofthooft; Patrick Deelen; Conny M. A. van Ravenswaaij-Arts; Wilhelmina S. Kerstjens-Frederikse
European Journal of Human Genetics. 29:1669-1676
Academic Journal
Jonathan Lévy; Bérénice Schell; Hala Nasser; Myriam Rachid; Lyse Ruaud; Nathalie Couque; Patrick Callier; Laurence Faivre; Nathalie Marle; Aafke Engwerda; Conny M. A. van Ravenswaaij‐Arts; Morgane Plutino; Houda Karmous‐Benailly; Caroline Benech; Sylvia Redon; Odile Boute; Elise Boudry Labis; Mélanie Rama; Paul Kuentz; Jessica Assoumani; Lionel Van Maldergem; Céline Dupont; Alain Verloes; Anne‐Claude Tabet
Clinical Genetics. 100:396-404
Academic Journal
Rodríguez-Palmero, Agustí; Boerrigter, Melissa Maria; Gómez-Andrés, David; Aldinger, Kimberly A.; Marcos-Alcalde, Íñigo; Popp, Bernt; Everman, David B.; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V. A.; Bruel, Ange-Line; Challman, Thomas D.; Cogné, Benjamin; Coubes, Christine; de Man, Stella A.; Denommé-Pichon, Anne-Sophie; Dye, Thomas J.; Elmslie, Frances; Feuk, Lars; García-Miñaúr, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B.; Haldeman-Englert, Chad R.; Haukanes, Bjørn Ivar; Hoyer, Juliane; Hurst, Anna C. E.; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E.; Leppig, Kathleen A.; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A.; Moghadasi, Setareh; Morton, Jenny E.; Moutton, Sebastien; Müller, Amelie J.; O’Leary, Melanie; Pacio-Míguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Pfundt, Rolph; Pode-Shakked, Ben; Rauch, Anita; Repnikova, Elena; Revah-Politi, Anya; Ross, Meredith J.; Ruivenkamp, Claudia A. L.; Sarrazin, Elisabeth; Savatt, Juliann M.; Schlüter, Agatha; Schönewolf-Greulich, Bitten; Shad, Zohra; Shaw-Smith, Charles; Shieh, Joseph T.; Shohat, Motti; Spranger, Stephanie; Thiese, Heidi; Mau-Them, Frederic Tran; van Bon, Bregje; van de Burgt, Ineke; van de Laar, Ingrid M. B. H.; van Drie, Esmée; van Haelst, Mieke M.; van Ravenswaaij-Arts, Conny M.; Verdura, Edgard; Vitobello, Antonio; Waldmüller, Stephan; Whiting, Sharon; Zweier, Christiane; Prada, Carlos E.; de Vries, Bert B. A.; Dobyns, William B.; Reiter, Simone F.; Gómez-Puertas, Paulino; Pujol, Aurora; Tümer, Zeynep
Genetics in medicine. 23(5):888-899
Academic Journal
Case Rep Genet
Case Reports in Genetics, Vol 2022 (2022)
Case Reports in Genetics, Vol 2022 (2022)
Academic Journal
Zanoni, Paolo; Steindl, Katharina; Sengupta, Deepanwita; Joset, Pascal; Bahr, Angela; Sticht, Heinrich; Lang-Muritano, Mariarosaria; van Ravenswaaij-Arts, Conny M. A.; Shinawi, Marwan; Andrews, Marisa; Attie-Bitach, Tania; Maystadt, Isabelle; Belnap, Newell; Benoit, Valerie; Delplancq, Geoffroy; de Vries, Bert B. A.; Grotto, Sarah; Lacombe, Didier; Larson, Austin; Mourmans, Jeroen; Õunap, Katrin; Petrilli, Giulia; Pfundt, Rolph; Ramsey, Keri; Snijders Blok, Lot; Tsatsaris, Vassilis; Vitobello, Antonio; Faivre, Laurence; Wheeler, Patricia G.; Wevers, Marijke R.; Wojcik, Monica; Zweier, Markus; Gozani, Or; Rauch, Anita
Genet Med
Genetics in Medicine, 23, 8, pp. 1474-1483
Genetics in Medicine, 23 (8)
Genetics in Medicine, 23, 8, pp. 1474-1483
Genetics in Medicine, 23 (8)
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