학술논문
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'학술논문'
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1~20
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
Schincariol-Manhe, Beatriz; Campagnolo, Érica; Spineli-Silva, Samira; de Leeuw, Nicole; Correia-Costa, Gabriela Roldão; Pessoa, André; de Souza, Carolina Fischinger Moura; Stevens, Cathy; Javaher, Poupak; Scallet, Helena Fabbri; Mohr, Julia; Biskup, Saskia; Herkert, Johanna C.; Pfundt, Rolph; Mehta, Lakshmi; Rekab, Aisha; Elloumi, Houda Zghal; Sanyoura, May; Maciel-Guerra, Andréa Trevas; Gil-da-Silva-Lopes, Vera Lúcia; dos Santos, Ana Mondadori; Vieira, Társis Paiva
European Journal of Human Genetics. 32(12):1640-1646
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
Oud, Manon S.; de Leeuw, Nicole; Smeets, Dominique F. C. M.; Ramos, Liliana; van der Heijden, Godfried W.; Timmermans, Raoul G. J.; van de Vorst, Maartje; Hofste, Tom; Kempers, Marlies J. E.; Stokman, Marijn F.; D'Hauwers, Kathleen W. M.; Faas, Brigitte H. W.; Westra, Dineke
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, Társis P.
Psychiatric Genetics. Jun 01, 2025 35(3):75-78
Academic Journal
Dingemans, Alexander J. M.; Jansen, Sandra; van Reeuwijk, Jeroen; de Leeuw, Nicole; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke; van Bon, Bregje W.; Marcelis, Carlo; Ockeloen, Charlotte W.; Willemsen, Marjolein; van der Sluijs, Pleuntje J.; Santen, Gijs W. E.; Kooy, R. Frank; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.
Nature Medicine. 30(7):1994-2003
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
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
de Koning, Maayke A.; Pimienta Ramirez, Paula A.; Haak, Monique C.; Han, Xiao; Ruiterkamp-Versteeg, Martina H. A.; de Leeuw, Nicole; Schatz, Ulrich A.; Shoukier, Moneef; Rieger-Fackeldey, Esther; Ortiz, Javier U.; van Duinen, Sjoerd G.; Klein, Willemijn M.; Witlox, Ruben S. G. M.; Finnell, Richard H.; Santen, Gijs W. E.; Lei, Yunping; Suerink, Manon
Academic Journal
Kempers, Marlies JE. ; Wessels, Marja ; Van Berendoncks, An ; van de Laar, Ingrid MBH. ; de Leeuw, Nicole ; Loeys, Bart
In European Journal of Medical Genetics October 2022 65(10)
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
Tooze, Rebecca S. ; Miller, Kerry A. ; Swagemakers, Sigrid M.A. ; Calpena, Eduardo ; McGowan, Simon J. ; Boute, Odile ; Collet, Corinne ; Johnson, David ; Laffargue, Fanny ; de Leeuw, Nicole ; Morton, Jenny V. ; Noons, Peter ; Ockeloen, Charlotte W. ; Phipps, Julie M. ; Tan, Tiong Yang ; Timberlake, Andrew T. ; Vanlerberghe, Clemence ; Wall, Steven A. ; Weber, Astrid ; Wilson, Louise C. ; Zackai, Elaine H. ; Mathijssen, Irene M.J. ; Twigg, Stephen R.F. ; Wilkie, Andrew O.M.
In Genetics in Medicine September 2023 25(9)
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 R. ; Foote, Kendall M. ; Veenstra-Knol, Hermine E. ; Pfundt, Rolph ; ten Broeke, Sanne W. ; de Leeuw, Nicole ; Roht, Laura ; Pajusalu, Sander ; Part, Reelika ; Rebane, Ionella ; Õunap, Katrin ; Stark, Zornitza ; Kirk, Edwin P. ; Lawson, John A. ; Lunke, Sebastian ; Christodoulou, John ; Louie, Raymond J. ; Rogers, R. Curtis ; Davis, Jessica M. ; Innes, A. Micheil ; Wei, Xing-Chang ; Keren, Boris ; Mignot, Cyril ; Lebel, Robert Roger ; Sperber, Steven M. ; Sakonju, Ai ; Dosa, Nienke ; Barge-Schaapveld, Daniela Q.C.M. ; Peeters-Scholte, Cacha M.P.C.D. ; Ruivenkamp, Claudia A.L. ; van Bon, Bregje W. ; Kennedy, Joanna ; Low, Karen J. ; Ellard, Sian ; Pang, Lewis ; Junewick, Joseph J. ; Mark, Paul R. ; Carvill, Gemma L. ; Swanson, Geoffrey T.
In The American Journal of Human Genetics 2 September 2021 108(9):1692-1709
Academic Journal
Pennings, Maartje; Meijer, Rowdy P. P.; Gerrits, Monique; Janssen, Jannie; Pfundt, Rolph; de Leeuw, Nicole; Gilissen, Christian; Gardeitchik, Thatjana; Schouten, Meyke; Voermans, Nicol; van de Warrenburg, Bart; Kamsteeg, Erik-Jan
European Journal of Human Genetics. 31(6):654-662
Academic Journal
Gear, Russell; Kalitsis, Paul; Glass, Melissa; Isidor, Bertrand; Vincent‐Delorme, Catherine; Petit, Florence; Verhagen, Judith M. A.; Jorge, Alexander; Krepischi, Ana Cristina Victorino; Osei‐Owusu, Ikeoluwa; Martinez, Eva; O'Donnell‐Luria, Anne; de Leeuw, Nicole; Ruggiero, Sarah; Helbig, Ingo; David, Francis; Brown, Natasha J.
American Journal of Medical Genetics. Part A; Nov2025, Vol. 197 Issue 11, p1-11, 11p
Academic Journal
van der Sanden, Bart P. G. H.; Schobers, Gaby; Corominas Galbany, Jordi; Koolen, David A.; Sinnema, Margje; van Reeuwijk, Jeroen; Stumpel, Connie T. R. M.; Kleefstra, Tjitske; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; Leijsten, Nico; Kwint, Michael; Derks, Ronny; Swinkels, Hilde; den Ouden, Amber; Pfundt, Rolph; Rinne, Tuula; de Leeuw, Nicole; Stegmann, Alexander P.; Stevens, Servi J.; van den Wijngaard, Arthur; Brunner, Han G.; Yntema, Helger G.; Gilissen, Christian; Nelen, Marcel R.; Vissers, Lisenka E. L. M.
European Journal of Human Genetics. 31(1):81-88
Academic Journal
In European Journal of Medical Genetics May 2012 55(5):358-361
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