학술논문
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'학술논문'
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1~20
Academic Journal
Maayke A de Koning; Paula A Pimienta Ramirez; Monique C Haak; Xiao Han; Martina HA Ruiterkamp-Versteeg; Nicole de Leeuw; Ulrich A Schatz; Moneef Shoukier; Esther Rieger-Fackeldey; Javier U Ortiz; Sjoerd G van Duinen; Willemijn M Klein; Ruben S G M Witlox; Richard H Finnell; Gijs W E Santen; Yunping Lei; Manon Suerink
Journal of Medical Genetics, 61, 6, pp. 549-552
Academic Journal
Beatriz Schincariol-Manhe; Érica Campagnolo; Samira Spineli-Silva; Nicole de Leeuw; Gabriela Roldão Correia-Costa; André Pessoa; Carolina Fischinger Moura de Souza; Cathy Stevens; Poupak Javaher; Helena Fabbri Scallet; Julia Mohr; Saskia Biskup; Johanna C. Herkert; Rolph Pfundt; Lakshmi Mehta; Aisha Rekab; Houda Zghal Elloumi; May Sanyoura; Andréa Trevas Maciel-Guerra; Vera Lúcia Gil-da-Silva-Lopes; Ana Mondadori dos Santos; Társis Paiva Vieira
European Journal of Human Genetics, 32, 12, pp. 1640-1646
Academic Journal
Russell Gear; Paul Kalitsis; Melissa Glass; Bertrand Isidor; Catherine Vincent‐Delorme; Florence Petit; Judith M. A. Verhagen; Alexander Jorge; Ana Cristina Victorino Krepischi; Ikeoluwa Osei‐Owusu; Eva Martinez; Anne O'Donnell‐Luria; Nicole de Leeuw; Sarah Ruggiero; Ingo Helbig; Francis David; Natasha J. Brown
Am J Med Genet A
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
Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M, de Vries, B B A, Ruiterkamp-Versteeg, M, de Leeuw , N, Ockeloen, C W, Pfundt, R, de Boer, E, Kummeling, J, van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M, Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Smith, A, Valenzuela, M I, Srivastava, S, Frazier, Z, Maystadt, I, Piscopo, C, Merla, G, Balasubramanian, M, Santen, G W E, Metcalfe, K, Park, S-M, Pasquier, L, Banka, S, Donnai, D, Weisberg, D, Strobl-Wildemann, G, Wagemans, A, Vreeburg, M, Baralle, D, Foulds, N, Scurr, I, Brunetti-Pierri, N, van Hagen, J M, Bijlsma, E K, Hakonen, A H, Courage, C, Genevieve, D, Pinson, L, Forzano, F, Deshpande, C, Kluskens, M L, Welling, L, Plomp, A S, Vanhoutte, E K, Kalsner, L, Hol, J A, Putoux, A, Lazier, J, Vasudevan, P, Ames, E, O'Shea, J, Lederer, D, Fleischer, J, O'Connor, M, Pauly, M, Vasileiou, G, Reis, A, Kiraly-Borri, C, Bouman, A, Barnett, C, Nezarati, M, Borch, L, Beunders, G, Özcan, K B, Miot, S, Volker-Touw, C M L, van Gassen, K L I, Cappuccio, G, Janssens, K, Mor, N, Shomer, I, Dominissini, D, Tedder, M L, Muir, A M, Sadikovic, B, Brunner, H G, Vissers, L E L M, Shinkai, Y & Kleefstra, T 2024, 'Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome', American journal of human genetics, vol. 111, no. 8, pp. 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008
American Journal of Human Genetics, 111, 8, pp. 1605-1625
The American journal of human genetics
Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M,de Vries, B B A, Ruiterkamp-Versteeg, M, de Leeuw , N, Ockeloen, C W, Pfundt, R, de Boer, E, Kummeling, J, van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M, Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Valenzuela, M I, Srivastava, S, Frazier, Z, Maystadt, I, Piscopo, C, Merla, G, Balasubramanian, M, Santen, G W E, Metcalfe, K, Park, S-M, Pasquier, L, Banka, S, Donnai, D, Weisberg, D, Strobl-Wildemann, G, Wagemans, A, Vreeburg, M, Baralle, D, Foulds, N, Scurr, I, Brunetti-Pierri, N, van Hagen, J M, Bijlsma, E K, Hakonen, A H, Courage, C, Genevieve, D, Pinson, L, Forzano, F, Deshpande, C, Kluskens, M L, Welling, L, Plomp, A S, Vanhoutte, E K, Kalsner, L, Hol, J A, Putoux, A, Lazier, J, Vasudevan, P, Ames, E, O'Shea, J, Lederer, D, Fleischer, J, Pauly, M, Vasileiou, G, Reis, A, Kiraly-Borri, C, Bouman, A, Barnett, C, Nezarati, M, Borch, L, Beunders, G, Özcan, K, Miot, S, Volker-Touw, C M L, van Gassen, K L I, Cappuccio, G, Janssens, K, Mor, N, Shomer, I, Dominissini, D, Tedder, M L, Sadikovic, B, Brunner, H G, Vissers, L E L M, Shinkai, Y & Kleefstra, T 2024, 'Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome', American Journal of Human Genetics, vol. 111, no. 8, pp. 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008
American Journal of Human Genetics, 111, 8, pp. 1605-1625
The American journal of human genetics
Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M,
Academic Journal
Ginjaar, Ieke B.; Kriek, Marjolein; Hoffer, Mariëtte J.V.; Oegema, Renske; van Binsbergen, Ellen; Diderich, Karin E.M.; van Zutven, Laura J.C.M.; Duijkers, Floor A.M.; Knegt, Alida C.; Erasmus, Corrie E.; de Leeuw, Nicole; Verheij, Joke B.G.M.; Dijkhuizen, Trijnie; van Duyvenvoorde, Hermine A.
Neuromuscular Disorders. 54
Academic Journal
Manon S. Oud; Nicole de Leeuw; Dominique F. C. M. Smeets; Liliana Ramos; Godfried W. van der Heijden; Raoul G. J. Timmermans; Maartje van de Vorst; Tom Hofste; Marlies J. E. Kempers; Marijn F. Stokman; Kathleen W. M. D'Hauwers; Brigitte H. W. Faas; Dineke Westra
Andrology
Andrology, 13, 5, pp. 1078-1092
Andrology, 13, 5, pp. 1078-1092
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
Samira Spineli‐Silva; Larissa Bretanha Pontes; Nicole de Leeuw; Gabriela Roldão Correia‐Costa; Melissa Bittencourt de Wallau; Beatriz Ribeiro Versiani; Juliana Forte Mazzeu; Raquel Boy; Vera Lúcia Gil‐da‐Silva‐Lopes; Társis Paiva Vieira
American Journal of Medical Genetics. Part A, 197, 5
Academic Journal
Maartje Pennings; Rowdy P. P. Meijer; Monique Gerrits; Jannie Janssen; Rolph Pfundt; Nicole de Leeuw; Christian Gilissen; Thatjana Gardeitchik; Meyke Schouten; Nicol Voermans; Bart van de Warrenburg; Erik-Jan Kamsteeg
Eur J Hum Genet
European Journal of Human Genetics, 31, 6, pp. 654-662
European Journal of Human Genetics, 31, 6, pp. 654-662
Academic Journal
Sultana MH Faradz; Peter Ivan Hadiprajitno; Rina Susanti Chen; Muhamad Rifqy Setyanto; Sefri Noventi Sofia; Pujo Widodo; Nicole de Leeuw; Alexander P.A. Stegmann; Bregje W van Bon
Journal of Health Science and Medical Research. :20251251
Academic Journal
Schobers, Gaby; Derks, Ronny; den Ouden, Amber; Swinkels, Hilde; van Reeuwijk, Jeroen; Bosgoed, Ermanno; Lugtenberg, Dorien; Sun, Su Ming; Corominas Galbany, Jordi; Weiss, Marjan; Blok, Marinus J.; Olde Keizer, Richelle A. C. M.; Hofste, Tom; Hellebrekers, Debby; de Leeuw, Nicole; Stegmann, Alexander; Kamsteeg, Erik-Jan; Paulussen, Aimee D. C.; Ligtenberg, Marjolijn J. L.; Bradley, Xiangqun Zheng; Peden, John; Gutierrez, Alejandra; Pullen, Adam; Payne, Tom; Gilissen, Christian; van den Wijngaard, Arthur; Brunner, Han G.; Nelen, Marcel; Yntema, Helger G.; Vissers, Lisenka E. L. M.
Genome Medicine. 16(1)
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
Garrelfs, Mark R.; Rinne, Tuula; Hillebrand, Jacquelien J.; Lauffer, Peter; Bijlsma, Merijn W.; Claahsen-van der Grinten, Hedi L.; de Leeuw, Nicole; Finken, Martijn J.J.; Rotteveel, Joost; Zwaveling-Soonawala, Nitash; Nieuwdorp, Max; van Trotsenburg, A.S. Paul; Mooij, Christiaan F.
Journal of Clinical Research in Pediatric Endocrinology. March, 2024, Vol. 16 Issue 1, p95, 7 p.
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
Mark Stevenson; Asha L. Bayliss; Victoria J. Stokes; Katherine A. English; Kreepa G. Kooblall; Roman Fischer; Raphael Heilig; Iolanda Vendrell; Maria E. W. A. Albers; Meghan Bartos; Amber Begtrup; Alexia Bourgois; Rebecca Buchert; David J. Carey; Deanna A. Carere; Amanda Carnevale; Kristl G. Claeys; Benjamin Cogne; Gregory Costain; Nicole de Leeuw; Anne-Sophie Denommé-Pichon; Elizabeth J. Donner; Eftychia Drogouti; David A. Dyment; Balram Gangaram; Tobias B. Haack; Jeremy S. Haley; Solveig Heide; Ralf A. Husain; Bertrand Isidor; Louise Izatt; Adeline Jacquinet; Jane Juusola; Juliette J. Kahle; Boris Keren; Eric W. Klee; Evgenia Kokosali; Brendan C. Lanpher; Erica L. Macke; Elysa J. Marco; Kirsty McWalter; Bryce A. Mendelsohn; Aubrey Milunsky; Matthew Osmond; Amelie Piton; Angelika Riess; Valentin Ruault; Patrick Rump; Sarah Schuhmann; Amelle L. Shillington; Diane T. Smelser; Lot Snijders Blok; Frederic Tran Mau-Them; Christos Tsakalidis; Abigail Turnwald; Koen L. I. Van Gassen; Kristof Van Schil; Georgia Vasileiou; Marissa Vawter-Lee; Marjolaine Willems; Marjolein H. Willemsen; Lily C. Wong-Kisiel; Antje Wonneberger; Ioannis Zaganas; Fadil M. Hannan; Kate E. Lines; Rajesh V. Thakker
Academic Journal
Spineli-Silva, Samira; de Leeuw, Nicole; Pontes, Larissa B.; Leijsten, Nico; Ruiterkamp-Versteeg, Martina; Prota, Joana R. M.; Marques-de-Faria, Antonia P.; Vieira, Tarsis P.
Academic Journal
Souche, Erika; Beltran, Sergi; Brosens, Erwin; Belmont, John W.; Fossum, Magdalena; Riess, Olaf; Gilissen, Christian; Ardeshirdavani, Amin; Houge, Gunnar; van Gijn, Marielle; Clayton-Smith, Jill; Synofzik, Matthis; de Leeuw, Nicole; Deans, Zandra C.; Dincer, Yasemin; Eck, Sebastian H.; van eer Crabben, Saskia; Balasubramanian, Meena; Graessner, Holm; Sturm, Marc; Firth, Helen; Ferlini, Alessandra; Nabbout, Rima; De Baere, Elfride; Liehr, Thomas; Macek, Milan; Matthijs, Gert; Scheffer, Hans; Bauer, Peter; Yntema, Helger G.; Weiss, Marjan M.
Eur J Hum Genet
European journal of human genetics 30(9), 1017-1021 (2022). doi:10.1038/s41431-022-01113-x
European Journal of Human Genetics, 30, 9, pp. 1017-1021
Souche, E, Beltran, S, Brosens, E, Belmont, J W, Fossum, M, Riess, O, Gilissen, C, Ardeshirdavani, A, Houge, G, van Gijn, M, Clayton-Smith, J, Synofzik, M,de Leeuw , N, Deans, Z C, Dincer, Y, Eck, S H, van der Crabben, S, Balasubramanian, M, Graessner, H, Sturm, M, Firth, H, Ferlini, A, Nabbout, R, De Baere, E, Liehr, T, Macek, M, Matthijs, G, Scheffer, H, Bauer, P, Yntema, H G & Weiss, M M 2022, ' Recommendations for whole genome sequencing in diagnostics for rare diseases ', European Journal of Human Genetics, vol. 30, pp. 1017–1021 . https://doi.org/10.1038/s41431-022-01113-x
EUROPEAN JOURNAL OF HUMAN GENETICS
Eur. J. Hum. Genet.
European journal of human genetics 30(9), 1017-1021 (2022). doi:10.1038/s41431-022-01113-x
European Journal of Human Genetics, 30, 9, pp. 1017-1021
Souche, E, Beltran, S, Brosens, E, Belmont, J W, Fossum, M, Riess, O, Gilissen, C, Ardeshirdavani, A, Houge, G, van Gijn, M, Clayton-Smith, J, Synofzik, M,
EUROPEAN JOURNAL OF HUMAN GENETICS
Eur. J. Hum. Genet.
Academic Journal
Stolz, Jacob; Foote, Kendall; Veenstra-Knol, Hermine; Pfundt, Rolph; ten Broeke, Sanne; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Õunap, Katrin; Stark, Zornitza; Kirk, Edwin; Lawson, John; Lunke, Sebastian; Christodoulou, John; Louie, Raymond; Rogers, R Curtis; Davis, Jessica; Innes, a Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela; Peeters-Scholte, Cacha; Ruivenkamp, Claudia; van Bon, Bregje; Kennedy, Joanna; Low, Karen; Ellard, Sian; Pang, Lewis; Junewick, Joseph; Mark, Paul; Carvill, Gemma; Swanson, Geoffrey
American Journal of Human Genetics, 108, 9, pp. 1692-1709
Stolz, J R, Foote, K M, Veenstra-Knol, H E, Pfundt, R, ten Broeke, S W,de Leeuw , N, Roht, L, Pajusalu, S, Part, R, Rebane, I, Õunap, K, Stark, Z, Kirk, E P, Lawson, J A, Lunke, S, Christodoulou, J, Louie, R J, Rogers, R C, Davis, J M, Innes, A M, Wei, X C, Keren, B, Mignot, C, Lebel, R R, Sperber, S M, Sakonju, A, Dosa, N, Barge-Schaapveld, D Q C M, Peeters-Scholte, C M P C D, Ruivenkamp, C A L, van Bon, B W, Kennedy, J, Low, K J, Ellard, S, Pang, L, Junewick, J J, Mark, P R, Carvill, G L & Swanson, G T 2021, 'Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders', American Journal of Human Genetics, vol. 108, no. 9, pp. 1692-1709. https://doi.org/10.1016/j.ajhg.2021.07.007
Stolz, J R, Foote, K M, Veenstra-Knol, H E, Pfundt, R, ten Broeke, S W,
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