학술논문
'학술논문'
에서 검색결과 593건 | 목록
1~10
Academic Journal
Mattison, KA; Tossing, G; Mulroe, F; Simmons, C; Butler, KM; Schreiber, A; Alsadah, A; Neilson, DE; Naess, K; Wedell, A; Wredenberg, A; Sorlin, A; McCann, E; Burghel, GJ; Menendez, B; Hoganson, GE; Botto, LD; Filloux, FM; Aledo-Serrano, A; Gil-Nagel, A; Tatton-Brown, K; Verbeek, NE; van der Zwaag, B; Aleck, KA; Fazenbaker, AC; Balciuniene, J; Dubbs, HA; Marsh, ED; Garber, K; Ek, J; Duno, M; Hoei-Hansen, CE; Deardorff, MA; Raca, G; Quindipan, C; van Hirtum-Das, M; Breckpot, J; Hammer, TB; Moller, RS; Whitney, A; Douglas, AGL; Kharbanda, M; Brunetti-Pierri, N; Morleo, M; Nigro, V; May, HJ; Tao, JX; Argilli, E; Sherr, EH; Dobyns, WB; Baines, RA; Warwicker, J; Parker, JA; Banka, S; Campeau, PM; Escayg, A
Brain : a journal of neurology. 146(4):1357-1372
Academic Journal
Huth, Emily A.; Zhao, Xiaonan; Owen, Nichole; Luna, Pamela N.; Vogel, Ida; Dorf, Inger L. H.; Joss, Shelagh; Clayton-Smith, Jill; Parker, Michael J.; Louw, Jacoba J.; Gewillig, Marc; Breckpot, Jeroen; Kraus, Alison; Sasaki, Erina; Kini, Usha; Burgess, Trent; Tan, Tiong Y.; Armstrong, Ruth; Neas, Katherine; Ferrero, Giovanni B.; Brusco, Alfredo; Kerstjens-Frederikse, Wihelmina S.; Rankin, Julia; Helvaty, Lindsey R.; Landis, Benjamin J.; Geddes, Gabrielle C.; McBride, Kim L.; Ware, Stephanie M.; Shaw, Chad A.; Lalani, Seema R.; Rosenfeld, Jill A.; Scott, Daryl A.
European Journal of Human Genetics. 31(12):1430-1439
Academic Journal
Zhao, Yingjie; Wang, Yujue; Shi, Lijie; McDonald-McGinn, Donna M.; Crowley, T. Blaine; McGinn, Daniel E.; Tran, Oanh T.; Miller, Daniella; Lin, Jhih-Rong; Zackai, Elaine; Johnston, H. Richard; Chow, Eva W. C.; Vorstman, Jacob A. S.; Vingerhoets, Claudia; van Amelsvoort, Therese; Gothelf, Doron; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R.; Eliez, Stephan; Schneider, Maude; van den Bree, Marianne B. M.; Owen, Michael J.; Kates, Wendy R.; Repetto, Gabriela M.; Shashi, Vandana; Schoch, Kelly; Bearden, Carrie E.; Digilio, M. Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Pontillo, Maria; Armando, Marco; Vicari, Stefano; Angkustsiri, Kathleen; Campbell, Linda; Busa, Tiffany; Heine-Suñer, Damian; Murphy, Kieran C.; Murphy, Declan; García-Miñaúr, Sixto; Fernández, Luis; Zhang, Zhengdong D.; Goldmuntz, Elizabeth; Gur, Raquel E.; Emanuel, Beverly S.; Zheng, Deyou; Marshall, Christian R.; Bassett, Anne S.; Wang, Tao; Morrow, Bernice E.
npj Genomic Medicine. 8(1)
Academic Journal
Yingjie Zhao; Yujue Wang; Lijie Shi; Donna M. McDonald-McGinn; T. Blaine Crowley; Daniel E. McGinn; Oanh T. Tran; Daniella Miller; Jhih-Rong Lin; Elaine Zackai; H. Richard Johnston; Eva W. C. Chow; Jacob A. S. Vorstman; Claudia Vingerhoets; Therese van Amelsvoort; Doron Gothelf; Ann Swillen; Jeroen Breckpot; Joris R. Vermeesch; Stephan Eliez; Maude Schneider; Marianne B. M. van den Bree; Michael J. Owen; Wendy R. Kates; Gabriela M. Repetto; Vandana Shashi; Kelly Schoch; Carrie E. Bearden; M. Cristina Digilio; Marta Unolt; Carolina Putotto; Bruno Marino; Maria Pontillo; Marco Armando; Stefano Vicari; Kathleen Angkustsiri; Linda Campbell; Tiffany Busa; Damian Heine-Suñer; Kieran C. Murphy; Declan Murphy; Sixto García-Miñaúr; Luis Fernández; International 22q11.2 Brain and Behavior Consortium (IBBC); Zhengdong D. Zhang; Elizabeth Goldmuntz; Raquel E. Gur; Beverly S. Emanuel; Deyou Zheng; Christian R. Marshall; Anne S. Bassett; Tao Wang; Bernice E. Morrow
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-15 (2023)
Academic Journal
Verbesselt, J.; Walsh, L. K.; Mitchel, M. W.; Taylor, C. M.; Finucane, B. M.; Breckpot, J.; Zink, I.; Swillen, A.
Academic Journal
Arthur A. M. Wilde; Christopher Semsarian; Manlio F. Márquez; Alireza Sepehri Shamloo; Michael J. Ackerman; Euan A. Ashley; Back Sternick Eduardo; Héctor Barajas‐Martinez; Elijah R. Behr; Connie R. Bezzina; Jeroen Breckpot; Philippe Charron; Priya Chockalingam; Lia Crotti; Michael H. Gollob; Steven Lubitz; Naomasa Makita; Seiko Ohno; Martín Ortiz‐Genga; Luciana Sacilotto; Eric Schulze‐Bahr; Wataru Shimizu; Nona Sotoodehnia; Rafik Tadros; James S. Ware; David S. Winlaw; Elizabeth S. Kaufman; Takeshi Aiba; Andreas Bollmann; Jong‐Il Choi; Aarti Dalal; Francisco Darrieux; John Giudicessi; Mariana Guerchicoff; Kui Hong; Andrew D. Krahn; Ciorsti Mac Intyre; Judith A. Mackall; Lluís Mont; Carlo Napolitano; Pablo Ochoa Juan; Petr Peichl; Alexandre C. Pereira; Peter J. Schwartz; Jon Skinner; Christoph Stellbrink; Jacob Tfelt‐Hansen; Thomas Deneke
Journal of Arrhythmia, Vol 38, Iss 4, Pp 491-553 (2022)
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate
Academic Journal
Breckpot, J; Anderlid, BM; Alanay, Y; Blyth, M; Brahimi, A; Duban-Bedu, B; Goze, O; Firth, H; Yakicier, MC; Hens, G; Rayyan, M; Legius, E; Vermeesch, JR; Devriendt, K
European journal of human genetics : EJHG. 24(1):51-58
Academic Journal
Barc, Julien; Tadros, Rafik; Glinge, Charlotte; Chiang, David Y.; Jouni, Mariam; Simonet, Floriane; Jurgens, Sean J.; Baudic, Manon; Nicastro, Michele; Potet, Franck; Offerhaus, Joost A.; Walsh, Roddy; Choi, Seung Hoan; Verkerk, Arie O.; Mizusawa, Yuka; Anys, Soraya; Minois, Damien; Arnaud, Marine; Duchateau, Josselin; Wijeyeratne, Yanushi D.; Muir, Alison; Papadakis, Michael; Castelletti, Silvia; Torchio, Margherita; Ortuño, Cristina Gil; Lacunza, Javier; Giachino, Daniela F.; Cerrato, Natascia; Martins, Raphaël P.; Campuzano, Oscar; Van Dooren, Sonia; Thollet, Aurélie; Kyndt, Florence; Mazzanti, Andrea; Clémenty, Nicolas; Bisson, Arnaud; Corveleyn, Anniek; Stallmeyer, Birgit; Dittmann, Sven; Saenen, Johan; Noël, Antoine; Honarbakhsh, Shohreh; Rudic, Boris; Marzak, Halim; Rowe, Matthew K.; Federspiel, Claire; Le Page, Sophie; Placide, Leslie; Milhem, Antoine; Barajas-Martinez, Hector; Beckmann, Britt-Maria; Krapels, Ingrid P.; Steinfurt, Johannes; Winkel, Bo Gregers; Jabbari, Reza; Shoemaker, Moore B.; Boukens, Bas J.; Škorić-Milosavljević, Doris; Bikker, Hennie; Manevy, Federico C.; Lichtner, Peter; Ribasés, Marta; Meitinger, Thomas; Müller-Nurasyid, Martina; Veldink, Jan H.; van den Berg, Leonard H.; Van Damme, Philip; Cusi, Daniele; Lanzani, Chiara; Rigade, Sidwell; Charpentier, Eric; Baron, Estelle; Bonnaud, Stéphanie; Lecointe, Simon; Donnart, Audrey; Le Marec, Hervé; Chatel, Stéphanie; Karakachoff, Matilde; Bézieau, Stéphane; London, Barry; Tfelt-Hansen, Jacob; Roden, Dan; Odening, Katja E.; Cerrone, Marina; Chinitz, Larry A.; Volders, Paul G.; van de Berg, Maarten P.; Laurent, Gabriel; Faivre, Laurence; Antzelevitch, Charles; Kääb, Stefan; Arnaout, Alain Al; Dupuis, Jean-Marc; Pasquie, Jean-Luc; Billon, Olivier; Roberts, Jason D.; Jesel, Laurence; Borggrefe, Martin; Lambiase, Pier D.; Mansourati, Jacques; Loeys, Bart; Leenhardt, Antoine; Guicheney, Pascale; Maury, Philippe; Schulze-Bahr, Eric; Robyns, Tomas; Breckpot, Jeroen; Babuty, Dominique; Priori, Silvia G.; Napolitano, Carlo; de Asmundis, Carlo; Brugada, Pedro; Brugada, Ramon; Arbelo, Elena; Brugada, Josep; Mabo, Philippe; Behar, Nathalie; Giustetto, Carla; Molina, Maria Sabater; Gimeno, Juan R.; Hasdemir, Can; Schwartz, Peter J.; Crotti, Lia; McKeown, Pascal P.; Sharma, Sanjay; Behr, Elijah R.; Haissaguerre, Michel; Sacher, Frédéric; Rooryck, Caroline; Tan, Hanno L.; Remme, Carol A.; Postema, Pieter G.; Delmar, Mario; Ellinor, Patrick T.; Lubitz, Steven A.; Gourraud, Jean-Baptiste; Tanck, Michael W.; George, Jr., Alfred L.; MacRae, Calum A.; Burridge, Paul W.; Dina, Christian; Probst, Vincent; Wilde, Arthur A.; Schott, Jean-Jacques; Redon, Richard; Bezzina, Connie R.
Nature Genetics. 54(3):232-239
Academic Journal
Robert Lesurf; Abdelrahman Said; Oyediran Akinrinade; Jeroen Breckpot; Kathleen Delfosse; Ting Liu; Roderick Yao; Gabrielle Persad; Fintan McKenna; Ramil R. Noche; Winona Oliveros; Kaia Mattioli; Shreya Shah; Anastasia Miron; Qian Yang; Guoliang Meng; Michelle Chan Seng Yue; Wilson W. L. Sung; Bhooma Thiruvahindrapuram; Jane Lougheed; Erwin Oechslin; Tapas Mondal; Lynn Bergin; John Smythe; Shashank Jayappa; Vinay J. Rao; Jayaprakash Shenthar; Perundurai S. Dhandapany; Christopher Semsarian; Robert G. Weintraub; Richard D. Bagnall; Jodie Ingles; Genomics England Research Consortium; Marta Melé; Philipp G. Maass; James Ellis; Stephen W. Scherer; Seema Mital
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-17 (2022)
Academic Journal
Lesurf, Robert; Said, Abdelrahman; Akinrinade, Oyediran; Breckpot, Jeroen; Delfosse, Kathleen; Liu, Ting; Yao, Roderick; Persad, Gabrielle; McKenna, Fintan; Noche, Ramil R.; Oliveros, Winona; Mattioli, Kaia; Shah, Shreya; Miron, Anastasia; Yang, Qian; Meng, Guoliang; Yue, Michelle Chan Seng; Sung, Wilson W. L.; Thiruvahindrapuram, Bhooma; Lougheed, Jane; Oechslin, Erwin; Mondal, Tapas; Bergin, Lynn; Smythe, John; Jayappa, Shashank; Rao, Vinay J.; Shenthar, Jayaprakash; Dhandapany, Perundurai S.; Semsarian, Christopher; Weintraub, Robert G.; Bagnall, Richard D.; Ingles, Jodie; Melé, Marta; Maass, Philipp G.; Ellis, James; Scherer, Stephen W.; Mital, Seema
npj Genomic Medicine. 7(1)
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