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Zeitschriftenartikel
Diets, Illja J.; van der Donk, Roos; Baltrunaite, Kristina; Waanders, Esme; Reijnders, Margot R. F.; Dingemans, Alexander J. M.; Pfundt, Rolph; Vulto-van Silfhout, Anneke T.; Wiel, Laurens; Gilissen, Christian; Thevenon, Julien; Perrin, Laurence; Afenjar, Alexandra; Nava, Caroline; Keren, Boris; Bartz, Sarah; Peri, Bethany; Beunders, Gea; Verbeek, Nienke; van Gassen, Koen; Thiffault, Isabelle; Cadieux-Dion, Maxime; Huerta-Saenz, Lina; Wagner, Matias; Konstantopoulou, Vassiliki; Vodopiutz, Julia; Griese, Matthias; Boel, Annekatrien; Callewaert, Bert; Brunner, Han G.; Kleefstra, Tjitske; Hoogerbrugge, Nicoline; de Vries, Bert B. A.; Hwa, Vivian; Dauber, Andrew; Hehir-Kwa, Jayne Y.; Kuiper, Roland P. und Jongmans, Marjolijn C. J.
(2019):
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
In: American Journal of Human Genetics, Bd. 104, Nr. 4: S. 758-766
Bomken, Simon; Werff Ten Bosch, Jutte van der; Attarbaschi, Andishe; Bacon, Chris M.; Borkhardt, Arndt; Boztug, Kaan; Fischer, Ute; Hauck, Fabian; Kuiper, Roland P.; Lammens, Tim; Loeffen, Jan; Neven, Benedicte; Pan-Hammarstrom, Qiang; Quinti, Isabella; Seidel, Markus G.; Warnatz, Klaus; Wehr, Claudia; Lankester, Arjan C. und Gennery, Andrew R.
(2018):
Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group.
In: Frontiers in Immunology, Bd. 9, 2912
[PDF, 803kB]
Vogelaar, Ingrid P.; Post, Rachel S. van der; Krieken, J. Han J. M. van; Spruijt, Liesbeth; Zelst-Stams, Wendy A. G. van; Kets, C. Marleen; Lubinski, Jan; Jakubowska, Anna; Teodorczyk, Urszula; Aalfs, Cora M.; Hest, Liselotte P. van; Pinheiro, Hugo; Oliveira, Carla; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Lupski, James R.; Ligt, Joep de; Vissers, Lisenka E. L. M.; Hoischen, Alexander; Gilissen, Christian; Vorst, Maartje van de; Goeman, Jelle J.; Schackert, Hans K.; Ranzani, Guglielmina N.; Molinaro, Valeria; Garcia, Encarna B. Gomez; Hes, Frederik J.; Holinski-Feder, Elke; Genuardi, Maurizio; Ausems, Margreet G. E. M.; Sijmons, Rolf H.; Wagner, Anja; Kolk, Lizet E. van der; Björnevoll, Inga; Hoberg-Vetti, Hildegunn; Kessel, Ad Geurts van; Kuiper, Roland P.; Ligtenberg, Marjolijn J. L. und Hoogerbrugge, Nicoline
(2017):
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
In: European Journal of Human Genetics, Bd. 25, Nr. 11: S. 1246-1252