학술논문
'학술논문'
에서 검색결과 205건 | 목록
1~10
Academic Journal
Tripathy, Ratna; Leca, Ines; van Dijk, Tessa; Weiss, Janneke; van Bon, Bregje W; Sergaki, Maria Christina; Gstrein, Thomas; Breuss, Martin; Tian, Guoling; Bahi-Buisson, Nadia; Paciorkowski, Alexander R; Pagnamenta, Alistair T; Wenninger-Weinzierl, Andrea; Martinez-Reza, Maria Fernanda; Landler, Lukas; Lise, Stefano; Taylor, Jenny C; Terrone, Gaetano; Vitiello, Giuseppina; Del Giudice, Ennio; Brunetti-Pierri, Nicola; D’Amico, Alessandra; Reymond, Alexandre; Voisin, Norine; Bernstein, Jonathan A; Farrelly, Ellyn; Kini, Usha; Leonard, Thomas A; Valence, Stéphanie; Burglen, Lydie; Armstrong, Linlea; Hiatt, Susan M; Cooper, Gregory M; Aldinger, Kimberly A; Dobyns, William B; Mirzaa, Ghayda; Pierson, Tyler Mark; Baas, Frank; Chelly, Jamel; Cowan, Nicholas J; Keays, David Anthony
Neuron. 100(6)
Academic Journal
Morison, Lottie D.; Braden, Ruth O.; Amor, David J.; Brignell, Amanda; van Bon, Bregje W. M.; Morgan, Angela T.
European Journal of Human Genetics. 30(7):800-811
Academic Journal
Dingemans, Alexander J. M.; Hinne, Max; Truijen, Kim M. G.; Goltstein, Lia; van Reeuwijk, Jeroen; de Leeuw, Nicole; Schuurs-Hoeijmakers, Janneke; Pfundt, Rolph; Diets, Illja J.; den Hoed, Joery; de Boer, Elke; Coenen-van der Spek, Jet; Jansen, Sandra; van Bon, Bregje W.; Jonis, Noraly; Ockeloen, Charlotte W.; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; Campeau, Philippe M.; Palmer, Elizabeth E.; Van Esch, Hilde; Lyon, Gholson J.; Alkuraya, Fowzan S.; Rauch, Anita; Marom, Ronit; Baralle, Diana; van der Sluijs, Pleuntje J.; Santen, Gijs W. E.; Kooy, R. Frank; van Gerven, Marcel A. J.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.
Nature Genetics. 55(9):1598-1607
Academic Journal
Küry, Sébastien; van Woerden, Geeske M; Besnard, Thomas; Onori, Martina Proietti; Latypova, Xénia; Towne, Meghan C; Cho, Megan T; Prescott, Trine E; Ploeg, Melissa A; Sanders, Stephan; Stessman, Holly AF; Pujol, Aurora; Distel, Ben; Robak, Laurie A; Bernstein, Jonathan A; Denommé-Pichon, Anne-Sophie; Lesca, Gaëtan; Sellars, Elizabeth A; Berg, Jonathan; Carré, Wilfrid; Busk, Øyvind Løvold; van Bon, Bregje WM; Waugh, Jeff L; Deardorff, Matthew; Hoganson, George E; Bosanko, Katherine B; Johnson, Diana S; Dabir, Tabib; Holla, Øystein Lunde; Sarkar, Ajoy; Tveten, Kristian; de Bellescize, Julitta; Braathen, Geir J; Terhal, Paulien A; Grange, Dorothy K; van Haeringen, Arie; Lam, Christina; Mirzaa, Ghayda; Burton, Jennifer; Bhoj, Elizabeth J; Douglas, Jessica; Santani, Avni B; Nesbitt, Addie I; Helbig, Katherine L; Andrews, Marisa V; Begtrup, Amber; Tang, Sha; van Gassen, Koen LI; Juusola, Jane; Foss, Kimberly; Enns, Gregory M; Moog, Ute; Hinderhofer, Katrin; Paramasivam, Nagarajan; Lincoln, Sharyn; Kusako, Brandon H; Lindenbaum, Pierre; Charpentier, Eric; Nowak, Catherine B; Cherot, Elouan; Simonet, Thomas; Ruivenkamp, Claudia AL; Hahn, Sihoun; Brownstein, Catherine A; Xia, Fan; Schmitt, Sébastien; Deb, Wallid; Bonneau, Dominique; Nizon, Mathilde; Quinquis, Delphine; Chelly, Jamel; Rudolf, Gabrielle; Sanlaville, Damien; Parent, Philippe; Gilbert-Dussardier, Brigitte; Toutain, Annick; Sutton, Vernon R; Thies, Jenny; Peart-Vissers, Lisenka ELM; Boisseau, Pierre; Vincent, Marie; Grabrucker, Andreas M; Dubourg, Christèle; Network, Undiagnosed Diseases; Tan, Wen-Hann; Verbeek, Nienke E; Granzow, Martin; Santen, Gijs WE; Shendure, Jay; Isidor, Bertrand; Pasquier, Laurent; Redon, Richard; Yang, Yaping; State, Matthew W; Kleefstra, Tjitske; Cogné, Benjamin; HUGO, GEM; Study, Deciphering Developmental Disorders; Petrovski, Slavé; Retterer, Kyle
American Journal of Human Genetics. 101(5)
Academic Journal
Jansen, Nadieh A.; Braden, Ruth O.; Srivastava, Siddharth; Otness, Erin F.; Lesca, Gaetan; Rossi, Massimiliano; Nizon, Mathilde; Bernier, Raphael A.; Quelin, Chloé; van Haeringen, Arie; Kleefstra, Tjitske; Wong, Maggie M. K.; Whalen, Sandra; Fisher, Simon E.; Morgan, Angela T.; van Bon, Bregje W.
European Journal of Human Genetics. 29(8):1198-1205
Academic Journal
Morgan, Angela; Braden, Ruth; Wong, Maggie M. K.; Colin, Estelle; Amor, David; Liégeois, Frederique; Srivastava, Siddharth; Vogel, Adam; Bizaoui, Varoona; Ranguin, Kara; Fisher, Simon E.; van Bon, Bregje W.
European Journal of Human Genetics. 29(8):1216-1225
Academic Journal
van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A.; Trajkova, Slavica; Huisman, Sylvia A.; Bijlsma, Emilia K.; Kleefstra, Tjitske; van Bon, Bregje W.; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W.; van Hagen, Johanna M.; Plomp, Astrid S.; Mannens, Marcel M.A.M.; Alders, Mariëlle; van Haelst, Mieke M.; Ferrero, Giovanni B.; Brusco, Alfredo; Henneman, Peter; Sweetser, David A.; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
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
Blok, Lot Snijders; Madsen, Erik; Juusola, Jane; Gilissen, Christian; Baralle, Diana; Reijnders, Margot RF; Venselaar, Hanka; Helsmoortel, Céline; Cho, Megan T; Hoischen, Alexander; Vissers, Lisenka ELM; Koemans, Tom S; Wissink-Lindhout, Willemijn; Eichler, Evan E; Romano, Corrado; Van Esch, Hilde; Stumpel, Connie; Vreeburg, Maaike; Smeets, Eric; Oberndorff, Karin; van Bon, Bregje WM; Shaw, Marie; Gecz, Jozef; Haan, Eric; Bienek, Melanie; Jensen, Corinna; Loeys, Bart L; Van Dijck, Anke; Innes, A Micheil; Racher, Hilary; Vermeer, Sascha; Di Donato, Nataliya; Rump, Andreas; Tatton-Brown, Katrina; Parker, Michael J; Henderson, Alex; Lynch, Sally A; Fryer, Alan; Ross, Alison; Vasudevan, Pradeep; Kini, Usha; Newbury-Ecob, Ruth; Chandler, Kate; Male, Alison; Study, the DDD; Dijkstra, Sybe; Schieving, Jolanda; Giltay, Jacques; van Gassen, Koen LI; Schuurs-Hoeijmakers, Janneke; Tan, Perciliz L; Pediaditakis, Igor; Haas, Stefan A; Retterer, Kyle; Reed, Patrick; Monaghan, Kristin G; Haverfield, Eden; Natowicz, Marvin; Myers, Angela; Kruer, Michael C; Stein, Quinn; Strauss, Kevin A; Brigatti, Karlla W; Keating, Katherine; Burton, Barbara K; Kim, Katherine H; Charrow, Joel; Norman, Jennifer; Foster-Barber, Audrey; Kline, Antonie D; Kimball, Amy; Zackai, Elaine; Harr, Margaret; Fox, Joyce; McLaughlin, Julie; Lindstrom, Kristin; Haude, Katrina M; van Roozendaal, Kees; Brunner, Han; Chung, Wendy K; Kooy, R Frank; Pfundt, Rolph; Kalscheuer, Vera; Mehta, Sarju G; Katsanis, Nicholas; Kleefstra, Tjitske
American Journal of Human Genetics. 97(2)
Academic Journal
Jansen, Sandra; Hoischen, Alexander; Coe, Bradley P.; Carvill, Gemma L.; Van Esch, Hilde; Bosch, Daniëlle G. M.; Andersen, Ulla A.; Baker, Carl; Bauters, Marijke; Bernier, Raphael A.; van Bon, Bregje W.; Claahsen-van der Grinten, Hedi L.; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen, David; Kvarnung, Malin; Larsen, Martin J.; Marcelis, Carlo; McKenzie, Fiona; Monin, Marie-Lorraine; Nava, Caroline; Schuurs-Hoeijmakers, Janneke H.; Pfundt, Rolph; Steehouwer, Marloes; Stevens, Servi J. C.; Stumpel, Connie T.; Vansenne, Fleur; Vinci, Mirella; van de Vorst, Maartje; Vries, Petra de; Witherspoon, Kali; Veltman, Joris A.; Brunner, Han G.; Mefford, Heather C.; Romano, Corrado; Vissers, Lisenka E. L. M.; Eichler, Evan E.; de Vries, Bert B. A.
European Journal of Human Genetics. 26(1):54-63
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