학술논문
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'학술논문'
에서 검색결과 509건 | 목록
1~20
Academic Journal
Pelgrims, Elise; Hannes, Laurens; Noens, Ilse; Peeters, Yoni; Peeters, Hilde; Fiksinski, Ania M.; Heung, Tracy; Bassett, Anne S.; Breckpot, Jeroen; Swillen, Ann
Journal of Neurodevelopmental Disorders. 17(1)
Academic Journal
Journal of Neurodevelopmental Disorders. 17(1)
Academic Journal
Steyaert, Lotte; David, Karel; Breckpot, Jeroen; Renard, Marleen; Vander Poorten, Vincent; Decallonne, Brigitte
Calcified Tissue International: and Musculoskeletal Research. 116(1)
Academic Journal
Geysens, Mathilde; Huremagic, Benjamin; Souche, Erika; Breckpot, Jeroen; Devriendt, Koenraad; Peeters, Hilde; Van Buggenhout, Griet; Van Esch, Hilde; Van Den Bogaert, Kris; Vermeesch, Joris Robert
Genome Medicine. 17(1)
Academic Journal
Verbeke, Marcellino; Hannes, Laurens; Devriendt, Koen; Van den Bogaert, Kris; Cools, Bjorn; De Catte, Luc; Gewillig, Marc; Breckpot, Jeroen
Scientific Reports. 15(1)
Academic Journal
Gregor Dombrowsky; Liselot van der Laan; Ananília Silva; Jeroen Breckpot; Enrique Audain; Anna Wilsdon; Michael A. Levy; Niels Vos; Marcel Mannens; Jiao Wang; Anjali Jain; Robert Lesurf; David Winlaw; Connie R. Bezzina; Mary Ann Thomas; Almuth Caliebe; Sabine Klaassen; Felix Berger; Sven Dittrich; Brigitte Stiller; Hashim Abdul-Khaliq; Ingo Dähnert; Frances Bu’Lock; Siobhan Loughna; J. David Brook; Seema Mital; Robert B. Russell; Thomas Pickardt; Ulrike Bauer; Hans-Heiner Kramer; Anselm Uebing; Peter Henneman; Bekim Sadikovic; Alex Postma; Marc-Phillip Hitz
Genome Medicine, Vol 18, Iss 1, Pp 1-21 (2026)
Academic Journal
Volpi, Julia; Zhao, Xiaonan; Owen, Nichole; Evans, Tia; Holder-Espinasse, Muriel; Lahiri, Nayana; Sherlock, Eleanor; Poke, Gemma; Breckpot, Jeroen; Devriendt, Koen; Cools, Bjorn; Brusco, Alfredo; Ferrero, Giovanni Battista; Grosso, Enrico; Vasudevan, Pradeep; Loddo, Sara; Novelli, Antonio; Digilio, Maria Cristina; Engwerda, Aafke; Hitzert, Marrit; Male, Alison; Bownass, Lucy; Newbury-Ecob, Ruth; Miedzybrodzka, Zosia; Armstrong, Ruth; Lynch, Sally Ann; Houge, Gunnar; Xiong, Shiyi; Lalani, Seema R.; Rosenfeld, Jill A.; Luna, Pamela N.; Shaw, Chad A.; Scott, Daryl A.
European Journal of Human Genetics. :1-7
Academic Journal
Journal of Endocrinological Investigation: Official Journal of Italian Society of Endocrinology (SIE). 48(4):831-844
Academic Journal
Walsh, Roddy; Lahrouchi, Najim; Tadros, Rafik; Kyndt, Florence; Glinge, Charlotte; Postema, Pieter G.; Amin, Ahmad S.; Nannenberg, Eline A.; Ware, James S.; Whiffin, Nicola; Mazzarotto, Francesco; Skoric-Milosavljevic, Doris; Krijger, Christian; Arbelo, Elena; Babuty, Dominique; Barajas-Martinez, Hector; Beckmann, Britt M.; Bezieau, Stephane; Bos, J. Martijn; Breckpot, Jeroen; Campuzano, Oscar; Castelletti, Silvia; Celen, Candan; Clauss, Sebastian; Corveleyn, Anniek; Crotti, Lia; Dagradi, Federica; de Asmundis, Carlo; Denjoy, Isabelle; Dittmann, Sven; Ellinor, Patrick T.; Ortuno, Cristina Gil; Giustetto, Carla; Gourraud, Jean-Baptiste; Hazeki, Daisuke; Horie, Minoru; Ishikawa, Taisuke; Itoh, Hideki; Kaneko, Yoshiaki; Kanters, Jorgen K.; Kimoto, Hiroki; Kotta, Maria-Christina; Krapels, Ingrid P. C.; Kurabayashi, Masahiko; Lazarte, Julieta; Leenhardt, Antoine; Loeys, Bart L.; Lundin, Catarina; Makiyama, Takeru; Mansourati, Jacques; Martins, Raphael P.; Mazzanti, Andrea; Mörner, Stellan; Napolitano, Carlo; Ohkubo, Kimie; Papadakis, Michael; Rudic, Boris; Molina, Maria Sabater; Sacher, Frederic; Sahin, Hatice; Sarquella-Brugada, Georgia; Sebastiano, Regina; Sharma, Sanjay; Sheppard, Mary N.; Shimamoto, Keiko; Shoemaker, M. Benjamin; Stallmeyer, Birgit; Steinfurt, Johannes; Tanaka, Yuji; Tester, David J.; Usuda, Keisuke; van der Zwaag, Paul A.; Van Dooren, Sonia; Van Laer, Lut; Winbo, Annika; Winkel, Bo G.; Yamagata, Kenichiro; Zumhagen, Sven; Volders, Paul G. A.; Lubitz, Steven A.; Antzelevitch, Charles; Platonov, Pyotr G.; Odening, Katja E.; Roden, Dan M.; Roberts, Jason D.; Skinner, Jonathan R.; Tfelt-Hansen, Jacob; van den Berg, Maarten P.; Olesen, Morten S.; Lambiase, Pier D.; Borggrefe, Martin; Hayashi, Kenshi; Rydberg, Annika; Nakajima, Tadashi; Yoshinaga, Masao; Saenen, Johan B.; Kaeaeb, Stefan; Brugada, Pedro; Robyns, Tomas; Giachino, Daniela F.; Ackerman, Michael J.; Brugada, Ramon; Brugada, Josep; Gimeno, Juan R.; Hasdemir, Can; Guicheney, Pascale; Priori, Silvia G.; Schulze-Bahr, Eric; Makita, Naomasa; Schwartz, Peter J.; Shimizu, Wataru; Aiba, Takeshi; Schott, Jean-Jacques; Redon, Richard; Ohno, Seiko; Probst, Vincent; Behr, Elijah R.; Barc, Julien; Bezzina, Connie R.
Genetics in Medicine. 23(1):47-58
Academic Journal
Lisanne Vervoort; Nicolas Dierckxsens; Marta Sousa Santos; Senne Meynants; Erika Souche; Ruben Cools; Tracy Heung; Koen Devriendt; Hilde Peeters; Donna M. McDonald-McGinn; Ann Swillen; Jeroen Breckpot; Beverly S. Emanuel; Hilde Van Esch; Anne S. Bassett; Joris R. Vermeesch
Genome Res
Academic Journal
Journal of Speech, Language, and Hearing Research. 67:4487-4503
Academic Journal
David Porubsky; DongAhn Yoo; Philip C. Dishuck; Nidhi Koundinya; Erika Souche; William T. Harvey; Katherine M. Munson; Kendra Hoekzema; Daniel D. Chan; Tiffany Y. Leung; Marta S. Santos; Senne Meynants; Ann Swillen; Jeroen Breckpot; Vasiliki Tsapalou; Patrick Hasenfeld; Jan O. Korbel; Peter M. Lansdorp; Joris R. Vermeesch; Evan E. Eichler
bioRxiv
Academic Journal
Lahrouchi, Najim; Tadros, Rafik; Crotti, Lia; Mizusawa, Yuka; Postema, Pieter G.; Beekman, Leander; Walsh, Roddy; Hasegawa, Kanae; Barc, Julien; Ernsting, Marko; Turkowski, Kari L.; Mazzanti, Andrea; Beckmann, Britt M.; Shimamoto, Keiko; Diamant, Ulla-Britt; Wijeyeratne, Yanushi D.; Kucho, Yu; Robyns, Tomas; Ishikawa, Taisuke; Arbelo, Elena; Christiansen, Michael; Winbo, Annika; Jabbari, Reza; Lubitz, Steven A.; Steinfurt, Johannes; Rudic, Boris; Loeys, Bart; Shoemaker, M. Ben; Weeke, Peter E.; Pfeiffer, Ryan; Davies, Brianna; Andorin, Antoine; Hofman, Nynke; Dagradi, Federica; Pedrazzini, Matteo; Tester, David J.; Bos, J. Martijn; Sarquella-Brugada, Georgia; Campuzano, Oscar; Platonov, Pyotr G.; Stallmeyer, Birgit; Zumhagen, Sven; Nannenberg, Eline A.; Veldink, Jan H.; van den Berg, Leonard H.; Al-Chalabi, Ammar; Shaw, Christopher E.; Shaw, Pamela J.; Morrison, Karen E.; Andersen, Peter M., 1962; Mueller-Nurasyid, Martina; Cusi, Daniele; Barlassina, Cristina; Galan, Pilar; Lathrop, Mark; Munter, Markus; Werge, Thomas; Ribases, Marta; Aung, Tin; Khor, Chiea C.; Ozaki, Mineo; Lichtner, Peter; Meitinger, Thomas; van Tintelen, J. Peter; Hoedemaekers, Yvonne; Denjoy, Isabelle; Leenhardt, Antoine; Napolitano, Carlo; Shimizu, Wataru; Schott, Jean-Jacques; Gourraud, Jean-Baptiste; Makiyama, Takeru; Ohno, Seiko; Itoh, Hideki; Krahn, Andrew D.; Antzelevitch, Charles; Roden, Dan M.; Saenen, Johan; Borggrefe, Martin; Odening, Katja E.; Ellinor, Patrick T.; Tfelt-Hansen, Jacob; Skinner, Jonathan R.; van den Berg, Maarten P.; Olesen, Morten Salling; Brugada, Josep; Brugada, Ramon; Makita, Naomasa; Breckpot, Jeroen; Yoshinaga, Masao; Behr, Elijah R.; Rydberg, Annika; Aiba, Takeshi; Kaeaeb, Stefan; Priori, Silvia G.; Guicheney, Pascale; Tan, Hanno L.; Newton-Cheh, Christopher; Ackerman, Michael J.; Schwartz, Peter J.; Schulze-Bahr, Eric; Probst, Vincent; Horie, Minoru; Wilde, Arthur A.; Tanck, Michael W. T.; Bezzina, Connie R.
Circulation. 142(4):324-338
A novel variant in the NDNF gene in a 17-year old boy with hypogonadotropic hypogonadism and anosmia
Academic Journal
An Jacobs; Miel Theunis; Crombrugge Paul Van; Tommaso Todisco; Nelly Pitteloud; Jeroen Breckpot; Leen Antonio
Endocrine Abstracts.
Academic Journal
Noelia Rodriguez Mier; Martine Jaspers; Evelien Van Hoof; Mark Jorissen; Natalie Lorent; Marijke Proesmans; François Vermeulen; Jeroen Breckpot; Mieke Boon
Lung. 202:291-298
Academic Journal
Robert Lesurf; Jeroen Breckpot; Jade Bouwmeester; Nour Hanafi; Anjali Jain; Yijing Liang; Tanya Papaz; Jane Lougheed; Tapas Mondal; Mahmoud Alsalehi; Luis Altamirano-Diaz; Erwin Oechslin; Enrique Audain; Gregor Dombrowsky; Alex V. Postma; Odilia I. Woudstra; Berto J. Bouma; Marc-Phillip Hitz; Connie R. Bezzina; Gillian M. Blue; David S. Winlaw; Seema Mital
Genome Medicine, Vol 16, Iss 1, Pp 1-24 (2024)
Academic Journal
Emily A. Huth; Xiaonan Zhao; Nichole Owen; Pamela N. Luna; Ida Vogel; Inger L. H. Dorf; Shelagh Joss; Jill Clayton-Smith; Michael J. Parker; Jacoba J. Louw; Marc Gewillig; Jeroen Breckpot; Alison Kraus; Erina Sasaki; Usha Kini; Trent Burgess; Tiong Y. Tan; Ruth Armstrong; Katherine Neas; Giovanni B. Ferrero; Alfredo Brusco; Wihelmina S. Kerstjens-Frederikse; Julia Rankin; Lindsey R. Helvaty; Benjamin J. Landis; Gabrielle C. Geddes; Kim L. McBride; Stephanie M. Ware; Chad A. Shaw; Seema R. Lalani; Jill A. Rosenfeld; Daryl A. Scott
Huth, E A, Zhao, X, Owen, N, Luna, P N, Vogel, I, Dorf, I L H, Joss, S, Clayton-Smith, J, Louw, J J, Gewillig, M, Breckpot , J, Kraus, A, Sasaki, E, Kini, U, Burgess, T, Tan, T Y, Armstrong, R, Neas, K, Ferrero, G B, Brusco, A, Kerstjens-Frederikse, W S, Rankin, J, Helvaty, L R, Landis, B J, Geddes, G C, McBride, K L, Ware, S M, Shaw, C A, Lalani, S R, Rosenfeld, J A & Scott, D A 2023, 'Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return', European Journal of Human Genetics, vol. 31, no. 12, pp. 1430-1439. https://doi.org/10.1038/s41431-023-01451-4
Academic Journal
Jouret, Guillaume; Brado, Dominik; Breckpot, Jeroen; Vecchio, Davide; Fradin, Mélanie; Valenzuala, Irene; Fernandez, Paula; Martinez, Nuria; Sirchia, Fabio; Mussa, Alessandro; Fornari, Federico; Aziza, Jacqueline; Atallah Gonzalez, Maria Isis; Laffargue, Fanny; Michele, Gueneret; Chirita, Adela; Nizon, Mathilde; Van Kien, Philippe Khau; Mari, Francesca; Carrer, Anna; Haanpaa, Maria; Rooryck-Thambo, Caroline; Beneteau, Claire; Ichtertz, Jean-Baptiste; Bournez, Marie; Dupont, Juliette; Carcavilla, Atilano; Deiros, Lucia; Rikeros, Emikarina; De Los Angeles Gomez, Maria; Grelet, Maude; Lambert, Laetitia; Hérissant, Lucas; Ciorna, Viorica; Sorlin, Arthur; Dard, Rodolphe; Heddar, Abdelkader; Hermand, Jean-Paul; Menzies, Didier
Genetics in Medicine Open. 3
Academic Journal
Elise Pelgrims; Sally Ann Lynch; Laurens Hannes; Mariëtte J. V. Hoffer; Cindy Melotte; Arie Van Haeringen; Ann Swillen; Jeroen Breckpot
American Journal of Medical Genetics Part A. 191:1889-1899
Academic Journal
Hannes, Laurens ; Atzori, Marta ; Goldenberg, Alice ; Argente, Jesús ; Attie-Bitach, Tania ; Amiel, Jeanne ; Attanasio, Catia ; Braslavsky, Débora G. ; Bruel, Ange-Line ; Castanet, Mireille ; Dubourg, Christèle ; Jacobs, An ; Lyonnet, Stanislas ; Martinez-Mayer, Julian ; Pérez Millán, María Inés ; Pezzella, Nunziana ; Pelgrims, Elise ; Aerden, Mio ; Bauters, Marijke ; Rochtus, Anne ; Scaglia, Paula ; Swillen, Ann ; Sifrim, Alejandro ; Tammaro, Roberta ; Mau-Them, Frederic Tran ; Odent, Sylvie ; Thauvin-Robinet, Christel ; Franco, Brunella ; Breckpot, Jeroen
In Genetics in Medicine April 2024 26(4)
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