학술논문
'학술논문'
에서 검색결과 97건 | 목록
1~10
Academic Journal
Picketts, D; Mirzaa, G; Yan, K; Relator, R; Timpano, S; Yalcin, B; Collins, S; Ziegler, A; Pao, E; Oyama, N; Brischoux-Boucher, E; Piard, J; Monaghan, K; Sacoto, MG; Dobyns, W; Park, K; Fernández-Mayoralas, D; Fernández-Jaén, A; Jayakar, P; Brusco, A; Antona, V; Giorgio, E; Kvarnung, M; Isidor, B; Conrad, S; Cogné, B; Deb, W; Stuurman, KE; Sterbova, K; Smal, N; Weckhuysen, S; Oegema, R; Innes, M; Latsko, M; Ben-Omran, T; Yeh, R; Kruer, M; Bakhtiari, S; Papavasiliou, A; Moutton, S; Nambot, S; Chanprasert, S; Paolucci, S; Miller, K; Burton, B; Kim, K; O'Heir, E; Bruwer, Z; Donald, K; Kleefstra, T; Goldstein, A; Angle, B; Bontempo, K; Miny, P; Joset, P; Demurger, F; Hobson, E; Pang, L; Carpenter, L; Li, D; Bonneau, D; Sadikovic, B
Research square.
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
Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P.Y. Billie; Weksberg, Rosanna
In The American Journal of Human Genetics 6 October 2022 109(10):1867-1884
Academic Journal
Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Russo, Rossana Sanchez; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux -Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjorg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E.; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D.; Corona, Rosario I.; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K.; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordona, Christopher T.
Academic Journal
Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T.; Bradley, Lisa; Brady, Angela F.; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E.; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; Lachlan, Katherine; Lebel, Robert Roger; Byler, Melissa; Gershon, Eric; Lemire, Edmond; Gnazzo, Maria; Lepri, Francesca Romana; Marchese, Antonia; McEntagart, Meriel; McGaughran, Julie; Mizuno, Seiji; Okamoto, Nobuhiko; Rieubland, Claudine; Rodgers, Jonathan; Sasaki, Erina; Scalais, Emmanuel; Scurr, Ingrid; Suri, Mohnish; van der Burgt, Ineke; Matsumoto, Naomichi; Miyake, Noriko; Benoit, Valérie; Lederer, Damien; Banka, Siddharth
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(7):1202-1210
Academic Journal
Billes, A.; Morin, G.; Amram, F.; Jedraszak, G.; Pujalte, M.; Schluth-Bolard, C.; Till, M.; Sanlaville, D.; Chatron, N.; Amsallem, D.; Boudry-Labis, E.; Bouquillon, S.; Rama, M.; Boute, O.; Brischoux-Boucher, E.; Denizet, A.-L.A.; Piard, J.; Trouvé, C.; Callier, P.; Coutton, C.; Dieterich, K.; Kuentz, P.; Roze-Guillaumey, V.; Lespinasse, J.; Mazel, B.; Pennamen, P.; Rio, M.; Putoux, A.; Vieville, G.; Rooryck, C.
In: Clinical Genetics . (Clinical Genetics, September 2024, 106(3):234-246)
Electronic Resource
Jaarsveld, R.H. van; Reilly, J.; Cornips, M.C.; Hadders, M.A.; Agolini, E.; Ahimaz, P.; Anyane-Yeboa, K.; Bellanger, S.A.; Binsbergen, E. van; Boogaard, M.J. van den; Brischoux-Boucher, E.; Caylor, R.C.; Ciolfi, A.; Essen, T.A. van; Fontana, P.; Hopman, S.; Iascone, M.; Javier, M.M.; Kamsteeg, E.J.; Kerkhof, J.; Kido, J.; Kim, H.G.; Kleefstra, T.; Lonardo, F.; Lai, A.; Lev, D.; Levy, M.A.; Lewis, M.E.S.; Lichty, A.; Mannens, M.M.; Matsumoto, N.; Maya, I.; McConkey, H.; Megarbane, A.; Michaud, V.; Miele, E.; Niceta, M.; Novelli, A.; Onesimo, R.; Pfundt, R.P.; Popp, B.; Prijoles, E.; Relator, R.; Redon, S.; Rots, D.; Rouault, K.; Saida, K.; Schieving, J.H.; Tartaglia, M.; Tenconi, R.; Uguen, K.; Verbeek, N.; Walsh, C.A.; Yosovich, K.; Yuskaitis, C.J.; Zampino, G.; Sadikovic, B.; Alders, M.; Oegema, R.
Genetics in Medicine; 49; 62; 1098-3600; 1; 25; ~Genetics in Medicine~49~62~~~1098-3600~1~25~~
Electronic Resource
Peluso, F.; Caraffi, S.G.; Contrò, G.; Valeri, L.; Napoli, M.; Carboni, G.; Seth, A.; Zuntini, R.; Coccia, E.; Astrea, G.; Bisgaard, A.M.; Ivanovski, I.; Maitz, S.; Brischoux-Boucher, E.; Carter, M.T.; Dentici, M.L.; Devriendt, K.; Bellini, M.; Digilio, M.C.; Doja, A.; Dyment, D.A.; Farholt, S.; Ferreira, C.R.; Wolfe, L.A.; Gahl, W.A.; Gnazzo, M.; Goel, H.; Grønborg, S.W.; Hammer, T.; Iughetti, L.; Kleefstra, T.; Koolen, D.A.; Lepri, F.R.; Lemire, G.; Louro, P.; McCullagh, G.; Madeo, S.F.; Milone, A.; Milone, R.; Nielsen, Jens Cosedis; Novelli, A.; Ockeloen, C.W.; Pascarella, R.; Pippucci, T.; Ricca, I.; Robertson, S.P.; Sawyer, S.; Falkenberg Smeland, M.; Stegmann, S.; Stumpel, C.T.; Goel, A.; Taylor, J.M.; Barbuti, D.; Soresina, A.; Bedeschi, M.F.; Battini, R.; Cavalli, A.; Fusco, C.; Iascone, M.; Maldergem, L. Van; Venkateswaran, S.; Zuffardi, O.; Vergano, S.; Garavelli, L.; Bayat, A.
Journal of Medical Genetics, 60, 12, pp. 1224-1234
Electronic Resource
Genetica Sectie Genoomdiagnostiek; CMM Groep Lens; Cancer; Child Health; Genetica Klinische Genetica; Brain; van Jaarsveld, Richard H; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C; Ciolfi, Andrea; van Essen, Ton A J; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A; Lewis, M E Suzanne; Lichty, Angie; Mannens, Marcel M A M; Matsumoto, Naomichi; Maya, Idit; McConkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A; Yosovich, Keren; Yuskaitis, Christopher J; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Mariëlle; Oegema, Renske
Electronic Resource
Genetica Klinische Genetica; Brain; Child Health; Picketts, David; Mirzaa, Ghayda; Yan, Keqin; Relator, Raissa; Timpano, Sara; Yalcin, Binnaz; Collins, Stephan; Ziegler, Alban; Pao, Emily; Oyama, Nora; Brischoux-Boucher, Elise; Piard, Juliette; Monaghan, Kristin; Sacoto, Maria Guillen; Dobyns, William; Park, Kristen; Fernández-Mayoralas, Daniel; Fernández-Jaén, Alberto; Jayakar, Parul; Brusco, Alfredo; Antona, Vincenzo; Giorgio, Elisa; Kvarnung, Malin; Isidor, Bertrand; Conrad, Solène; Cogné, Benjamin; Deb, Wallid; Stuurman, K E; Sterbova, Katalin; Smal, Noor; Weckhuysen, Sarah; Oegema, Renske; Innes, Micheil; Latsko, Maeson; Ben-Omran, Tawfeg; Yeh, Rebecca; Kruer, Michael; Bakhtiari, Somayeh; Papavasiliou, Antigone; Moutton, Sébastien; Nambot, Sophie; Chanprasert, Sirisak; Paolucci, Sarah; Miller, Kait; Burton, Barbara; Kim, Katherine; O'Heir, Emily; Bruwer, Zandre; Donald, Kirsten; 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
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