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Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2017, Volume 101, Issue 3, pp. 466 - 477
Journal Article
by Snijders Blok, Lot and Madsen, Erik and Juusola, Jane and Gilissen, Christian and Baralle, Diana and Reijnders, Margot R.F and Venselaar, Hanka and Helsmoortel, Céline and Cho, Megan T and Hoischen, Alexander and Vissers, Lisenka E.L.M and Koemans, Tom S and Wissink-Lindhout, Willemijn and Eichler, Evan E and Romano, Corrado and Van Esch, Hilde and Stumpel, Connie and Vreeburg, Maaike and Smeets, Eric and Oberndorff, Karin and van Bon, Bregje W.M and Shaw, Marie and Gecz, Jozef and Haan, Eric and Bienek, Melanie and Jensen, Corinna and Loeys, Bart L and Van Dijck, Anke and Innes, A. Micheil and Racher, Hilary and Vermeer, Sascha and Di Donato, Nataliya and Rump, Andreas and Tatton-Brown, Katrina and Parker, Michael J and Henderson, Alex and Lynch, Sally A and Fryer, Alan and Ross, Alison and Vasudevan, Pradeep and Kini, Usha and Newbury-Ecob, Ruth and Chandler, Kate and Male, Alison and Dijkstra, Sybe and Schieving, Jolanda and Giltay, Jacques and van Gassen, Koen L.I and Schuurs-Hoeijmakers, Janneke and Tan, Perciliz L and Pediaditakis, Igor and Haas, Stefan A and Retterer, Kyle and Reed, Patrick and Monaghan, Kristin G and Haverfield, Eden and Natowicz, Marvin and Myers, Angela and Kruer, Michael C and Stein, Quinn and Strauss, Kevin A and Brigatti, Karlla W and Keating, Katherine and Burton, Barbara K and Kim, Katherine H and Charrow, Joel and Norman, Jennifer and Foster-Barber, Audrey and Kline, Antonie D and Kimball, Amy and Zackai, Elaine and Harr, Margaret and Fox, Joyce and McLaughlin, Julie and Lindstrom, Kristin and Haude, Katrina M and van Roozendaal, Kees and Brunner, Han and Chung, Wendy K and Kooy, R. Frank and Pfundt, Rolph and Kalscheuer, Vera and Mehta, Sarju G and Katsanis, Nicholas and Kleefstra, Tjitske and DDD Study
The American Journal of Human Genetics, ISSN 0002-9297, 08/2015, Volume 97, Issue 2, pp. 343 - 352
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, Issue 5, pp. 892 - 902
Journal Article
Nature Communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 1052 - 12
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2016, Volume 98, pp. 373 - 381
Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of... 
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 2015, Volume 125, pp. 3051 - 3062
Here we report inherited dysregulation of protein phosphatase activity as a cause of intellectual disability (ID). De novo missense mutations in 2 subunits of... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2016, Volume 99, pp. 711 - 719
The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing... 
Journal Article
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