학술논문
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'학술논문'
에서 검색결과 26건 | 목록
1~20
Academic Journal
Gaby Schobers; Ronny Derks; Amber den Ouden; Hilde Swinkels; Jeroen van Reeuwijk; Ermanno Bosgoed; Dorien Lugtenberg; Su Ming Sun; Jordi Corominas Galbany; Marjan Weiss; Marinus J. Blok; Richelle A. C. M. Olde Keizer; Tom Hofste; Debby Hellebrekers; Nicole de Leeuw; Alexander Stegmann; Erik-Jan Kamsteeg; Aimee D. C. Paulussen; Marjolijn J. L. Ligtenberg; Xiangqun Zheng Bradley; John Peden; Alejandra Gutierrez; Adam Pullen; Tom Payne; Christian Gilissen; Arthur van den Wijngaard; Han G. Brunner; Marcel Nelen; Helger G. Yntema; Lisenka E. L. M. Vissers
Genome Medicine, Vol 16, Iss 1, Pp 1-11 (2024)
Academic Journal
K. Joeri van der Velde; Gurnoor Singh; Rajaram Kaliyaperumal; XiaoFeng Liao; Sander de Ridder; Susanne Rebers; Hindrik H. D. Kerstens; Fernanda de Andrade; Jeroen van Reeuwijk; Fini E. De Gruyter; Saskia Hiltemann; Maarten Ligtvoet; Marjan M. Weiss; Hanneke W. M. van Deutekom; Anne M. L. Jansen; Andrew P. Stubbs; Lisenka E. L. M. Vissers; Jeroen F. J. Laros; Esther van Enckevort; Daphne Stemkens; Peter A. C. ‘t Hoen; Jeroen A. M. Beliën; Mariëlle E. van Gijn; Morris A. Swertz
Scientific Data, Vol 9, Iss 1, Pp 1-13 (2022)
Academic Journal
Elke de Boer; Carlo Marcelis; Kornelia Neveling; Ellen van Beusekom; Alexander Hoischen; Willemijn M. Klein; Nicole de Leeuw; Tuomo Mantere; Uirá S. Melo; Jeroen van Reeuwijk; Dominique Smeets; Malte Spielmann; Tjitske Kleefstra; Hans van Bokhoven; Lisenka E.L.M. Vissers
HGG Advances, Vol 4, Iss 3, Pp 100200- (2023)
Academic Journal
Karsten Boldt; Jeroen van Reeuwijk; Qianhao Lu; Konstantinos Koutroumpas; Thanh-Minh T. Nguyen; Yves Texier; Sylvia E. C. van Beersum; Nicola Horn; Jason R. Willer; Dorus A. Mans; Gerard Dougherty; Ideke J. C. Lamers; Karlien L. M. Coene; Heleen H. Arts; Matthew J. Betts; Tina Beyer; Emine Bolat; Christian Johannes Gloeckner; Khatera Haidari; Lisette Hetterschijt; Daniela Iaconis; Dagan Jenkins; Franziska Klose; Barbara Knapp; Brooke Latour; Stef J. F. Letteboer; Carlo L. Marcelis; Dragana Mitic; Manuela Morleo; Machteld M. Oud; Moniek Riemersma; Susan Rix; Paulien A. Terhal; Grischa Toedt; Teunis J. P. van Dam; Erik de Vrieze; Yasmin Wissinger; Ka Man Wu; Gordana Apic; Philip L. Beales; Oliver E. Blacque; Toby J. Gibson; Martijn A. Huynen; Nicholas Katsanis; Hannie Kremer; Heymut Omran; Erwin van Wijk; Uwe Wolfrum; François Kepes; Erica E. Davis; Brunella Franco; Rachel H. Giles; Marius Ueffing; Robert B. Russell; Ronald Roepman; UK10K Rare Diseases Group
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Academic Journal
Teunis J P van Dam; Julie Kennedy; Robin van der Lee; Erik de Vrieze; Kirsten A Wunderlich; Suzanne Rix; Gerard W Dougherty; Nils J Lambacher; Chunmei Li; Victor L Jensen; Michel R Leroux; Rim Hjeij; Nicola Horn; Yves Texier; Yasmin Wissinger; Jeroen van Reeuwijk; Gabrielle Wheway; Barbara Knapp; Jan F Scheel; Brunella Franco; Dorus A Mans; Erwin van Wijk; François Képès; Gisela G Slaats; Grischa Toedt; Hannie Kremer; Heymut Omran; Katarzyna Szymanska; Konstantinos Koutroumpas; Marius Ueffing; Thanh-Minh T Nguyen; Stef J F Letteboer; Machteld M Oud; Sylvia E C van Beersum; Miriam Schmidts; Philip L Beales; Qianhao Lu; Rachel H Giles; Radek Szklarczyk; Robert B Russell; Toby J Gibson; Colin A Johnson; Oliver E Blacque; Uwe Wolfrum; Karsten Boldt; Ronald Roepman; Victor Hernandez-Hernandez; Martijn A Huynen
PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
Academic Journal
Margo Dona; Ruxandra Bachmann-Gagescu; Yves Texier; Grischa Toedt; Lisette Hetterschijt; Edith L Tonnaer; Theo A Peters; Sylvia E C van Beersum; Judith G M Bergboer; Nicola Horn; Erik de Vrieze; Ralph W N Slijkerman; Jeroen van Reeuwijk; Gert Flik; Jan E Keunen; Marius Ueffing; Toby J Gibson; Ronald Roepman; Karsten Boldt; Hannie Kremer; Erwin van Wijk
PLoS Genetics, Vol 11, Iss 10, p e1005574 (2015)
Academic Journal
Sebiha Cevik; Anna A W M Sanders; Erwin Van Wijk; Karsten Boldt; Lara Clarke; Jeroen van Reeuwijk; Yuji Hori; Nicola Horn; Lisette Hetterschijt; Anita Wdowicz; Andrea Mullins; Katarzyna Kida; Oktay I Kaplan; Sylvia E C van Beersum; Ka Man Wu; Stef J F Letteboer; Dorus A Mans; Toshiaki Katada; Kenji Kontani; Marius Ueffing; Ronald Roepman; Hannie Kremer; Oliver E Blacque
PLoS Genetics, Vol 9, Iss 12, p e1003977 (2013)
Academic Journal
Dirk J Lefeber; Arjan P M de Brouwer; Eva Morava; Moniek Riemersma; Janneke H M Schuurs-Hoeijmakers; Birgit Absmanner; Kiek Verrijp; Willem M R van den Akker; Karin Huijben; Gerry Steenbergen; Jeroen van Reeuwijk; Adam Jozwiak; Nili Zucker; Avraham Lorber; Martin Lammens; Carlos Knopf; Hans van Bokhoven; Stephanie Grünewald; Ludwig Lehle; Livia Kapusta; Hanna Mandel; Ron A Wevers
PLoS Genetics, Vol 7, Iss 12, p e1002427 (2011)
Academic Journal
Miriam Schmidts; Yuqing Hou; Claudio R. Cortés; Dorus A. Mans; Celine Huber; Karsten Boldt; Mitali Patel; Jeroen van Reeuwijk; Jean-Marc Plaza; Sylvia E. C. van Beersum; Zhi Min Yap; Stef J. F. Letteboer; S. Paige Taylor; Warren Herridge; Colin A. Johnson; Peter J. Scambler; Marius Ueffing; Hulya Kayserili; Deborah Krakow; Stephen M. King; UK10K; Philip L. Beales; Lihadh Al-Gazali; Carol Wicking; Valerie Cormier-Daire; Ronald Roepman; Hannah M. Mitchison; George B. Witman
Nature Communications, Vol 7, Iss 1, Pp 1-1 (2016)
Academic Journal
Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Lisenka E. L. M. Vissers; Anthony J. Brookes; Teresinha Evangelista; Christian Gilissen; Holm Graessner; Nicoline Hoogerbrugge; Stephan Ossowski; Olaf Riess; Rebecca Schüle; Matthis Synofzik; Alain Verloes; Leslie Matalonga; Han G. Brunner; Katja Lohmann; Ana Töpf; Lisenka E.L.M. Vissers; Sergi Beltran; Alexander Hoischen
Nat Med
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Academic Journal
Gaby Schobers; Maartje Pennings; Juliette de Vries; Michael Kwint; Jeroen van Reeuwijk; Jordi Corominas Galbany; Ronald van Beek; Eveline Kamping; Raoul Timmermans; Erik-Jan Kamsteeg; Lonneke Haer-Wigman; Frans P. M. Cremers; Susanne Roosing; Christian Gilissen; Hannie Kremer; Han G. Brunner; Helger G. Yntema; Lisenka E. L. M. Vissers
European Journal of Human Genetics, 33, 1, pp. 56-64
Academic Journal
Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Nicoline Hoogerbrugge; Olaf Riess; Alain Verloes; Lisenka E.L.M. Vissers; Teresinha Evangelista; Ana Töpf; Holm Graessner; Katja Lohmann; Rebecca Schüle; Matthis Synofzik; Sergi Beltran; Christian Gilissen; Anthony J. Brookes; Han G. Brunner; Alexander Hoischen; Leslie Matalonga; Stephan Ossowski
Nat Med
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Academic Journal
Alexander J. M. Dingemans; Sandra Jansen; Jeroen van Reeuwijk; Nicole de Leeuw; Rolph Pfundt; Janneke Schuurs-Hoeijmakers; Bregje W. van Bon; Carlo Marcelis; Charlotte W. Ockeloen; Marjolein Willemsen; Pleuntje J. van der Sluijs; Gijs W. E. Santen; R. Frank Kooy; Anneke T. Vulto-van Silfhout; Tjitske Kleefstra; David A. Koolen; Lisenka E. L. M. Vissers; Bert B. A. de Vries
Nature Medicine, 30, 7, pp. 1994-2003
Nature medicine
Nature medicine
Academic Journal
Alexander J. M. Dingemans; Max Hinne; Kim M. G. Truijen; Lia Goltstein; Jeroen van Reeuwijk; Nicole de Leeuw; Janneke Schuurs-Hoeijmakers; Rolph Pfundt; Illja J. Diets; Joery den Hoed; Elke de Boer; Jet Coenen-van der Spek; Sandra Jansen; Bregje W. van Bon; Noraly Jonis; Charlotte W. Ockeloen; Anneke T. Vulto-van Silfhout; Tjitske Kleefstra; David A. Koolen; Philippe M. Campeau; Elizabeth E. Palmer; Hilde Van Esch; Gholson J. Lyon; Fowzan S. Alkuraya; Anita Rauch; Ronit Marom; Diana Baralle; Pleuntje J. van der Sluijs; Gijs W. E. Santen; R. Frank Kooy; Marcel A. J. van Gerven; Lisenka E. L. M. Vissers; Bert B. A. de Vries
Nature Genetics, 55, 9, pp. 1598-1607
Nature Genetics
Nature genetics
Nat Genet.
Nature Genetics
Nature genetics
Nat Genet.
Academic Journal
Bart P. G. H. van der Sanden; Gaby Schobers; Jordi Corominas Galbany; David A. Koolen; Margje Sinnema; Jeroen van Reeuwijk; Connie T. R. M. Stumpel; Tjitske Kleefstra; Bert B. A. de Vries; Martina Ruiterkamp-Versteeg; Nico Leijsten; Michael Kwint; Ronny Derks; Hilde Swinkels; Amber den Ouden; Rolph Pfundt; Tuula Rinne; Nicole de Leeuw; Alexander P. Stegmann; Servi J. Stevens; Arthur van den Wijngaard; Han G. Brunner; Helger G. Yntema; Christian Gilissen; Marcel R. Nelen; Lisenka E. L. M. Vissers
Eur J Hum Genet
European Journal of Human Genetics, 31, 1, pp. 81-88
Eur J Hum Genet.
European Journal of Human Genetics, 31, 1, pp. 81-88
Eur J Hum Genet.
Academic Journal
Alexander J M Dingemans; Sandra Jansen; Jeroen van Reeuwijk; Nicole de Leeuw; Rolph Pfundt; Janneke Schuurs-Hoeijmakers; Bregje W van Bon; Carlo Marcelis; Charlotte W Ockeloen; Marjolein Willemsen; Pleuntje J van der Sluijs; Gijs W E Santen; R Frank Kooy; Anneke T Vulto-van Silfhout; Tjitske Kleefstra; David A Koolen; Lisenka E L M Vissers; Bert B A de Vries
Academic Journal
Julio C. Corral-Serrano; Ideke J. C. Lamers; Jeroen van Reeuwijk; Lonneke Duijkers; Anita D. M. Hoogendoorn; Adem Yildirim; Nikoleta Argyrou; Renate A. A. Ruigrok; Stef J. F. Letteboer; Rossano Butcher; Max D. van Essen; Sanae Sakami; Sylvia E. C. van Beersum; Krzysztof Palczewski; Michael E. Cheetham; Qin Liu; Karsten Boldt; Uwe Wolfrum; Marius Ueffing; Alejandro Garanto; Ronald Roepman; Rob W. J. Collin
Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences USA, 117, 18, pp. 9922-9931
Proceedings of the National Academy of Sciences of USA, vol 117, iss 18
Proceedings of the National Academy of Sciences USA, 117, 18, pp. 9922-9931
Proceedings of the National Academy of Sciences of USA, vol 117, iss 18
Academic Journal
Alexander J M Dingemans; Max Hinne; Kim M G Truijen; Lia Goltstein; Jeroen van Reeuwijk; Nicole de Leeuw; Janneke Schuurs-Hoeijmakers; Rolph Pfundt; Illja J Diets; Joery den Hoed; Elke de Boer; Jet Coenen-van der Spek; Sandra Jansen; Bregje W van Bon; Noraly Jonis; Charlotte Ockeloen; Anneke T Vulto-van Silfhout; Tjitske Kleefstra; David A Koolen; Hilde Van Esch; Gholson J Lyon; Fowzan S Alkuraya; Anita Rauch; Ronit Marom; Diana Baralle; Pleuntje J van der Sluijs; Gijs W E Santen; R Frank Kooy; Marcel A J van Gerven; Lisenka E L M Vissers; Bert B A de Vries
Academic Journal
Marijn F. Stokman; Bert van der Zwaag; Nicole C. A. J. van de Kar; Mieke M. van Haelst; Albertien M. van Eerde; Joost W. van der Heijden; Hester Y. Kroes; Elly Ippel; Annelien J. A. Schulp; Koen L. van Gassen; Iris A. L. M. van Rooij; Rachel H. Giles; Philip L. Beales; Ronald Roepman; Heleen H. Arts; Ernie M. H. F. Bongers; Kirsten Y. Renkema; Nine V. A. M. Knoers; Jeroen van Reeuwijk; Marc R. Lilien
Pediatr Nephrol
Stokman, M F, van der Zwaag, B, van de Kar, N C A J, van Haelst, M M, van Eerde, A M, van der Heijden, J W, Kroes, H Y, Ippel, E, Schulp, A J A, van Gassen, K L, van Rooij, I A L M, Giles, R H, Beales, P L, Roepman, R, Arts, H H, Bongers, E M H F, Renkema, K Y, Knoers, N V A M, van Reeuwijk, J & Lilien, M R 2018, 'Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy', Pediatric Nephrology, vol. 33, no. 10, pp. 1701-1712. https://doi.org/10.1007/s00467-018-3958-7, https://doi.org/10.1007/s00467-018-3958-7
Pediatric Nephrology, 33, 10, pp. 1701-1712
Stokman, M F, van der Zwaag, B, van de Kar, N C A J, van Haelst, M M, van Eerde, A M, van der Heijden, J W, Kroes, H Y, Ippel, E, Schulp, A J A, van Gassen, K L, van Rooij, I A L M, Giles, R H, Beales, P L, Roepman, R, Arts, H H, Bongers, E M H F, Renkema, K Y, Knoers, N V A M, van Reeuwijk, J & Lilien, M R 2018, 'Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy', Pediatric Nephrology, vol. 33, no. 10, pp. 1701-1712. https://doi.org/10.1007/s00467-018-3958-7, https://doi.org/10.1007/s00467-018-3958-7
Pediatric Nephrology, 33, 10, pp. 1701-1712
Academic Journal
Elke de Boer; Charlotte W. Ockeloen; Rosalie A. Kampen; Juliet E. Hampstead; Alexander J.M. Dingemans; Dmitrijs Rots; Lukas Lütje; Tazeen Ashraf; Rachel Baker; Mouna Barat-Houari; Brad Angle; Nicolas Chatron; Anne-Sophie Denommé-Pichon; Orrin Devinsky; Christèle Dubourg; Frances Elmslie; Houda Zghal Elloumi; Laurence Faivre; Sarah Fitzgerald-Butt; David Geneviève; Jacqueline A.C. Goos; Benjamin M. Helm; Jiddeke M. van de Kamp; Usha Kini; Amaia Lasa-Aranzasti; Gaetan Lesca; Sally A. Lynch; Irene M.J. Mathijssen; Ruth McGowan; Kristin G. Monaghan; Sylvie Odent; Rolph Pfundt; Audrey Putoux; Jeroen van Reeuwijk; Gijs W.E. Santen; Erina Sasaki; Jesitha Sivanathan; Arthur Sorlin; Peter J. van der Spek; Alexander P.A. Stegmann; Sigrid M.A. Swagemakers; Irene Valenzuela; Eléonore Viora-Dupont; Antonio Vitobello; Stephanie M. Ware; Mathys Wéber; Christian Gilissen; Karen J. Low; Simon E. Fisher; Lisenka E.L.M. Vissers; Maggie M.K. Wong; Tjitske Kleefstra
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