학술논문
'학술논문'
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1~10
Academic Journal
Ansari, Morad; Faour, Kamli N.W.; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M.; Denhoff, Erica R.; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M.; Firth, Helen; Breman, Amy M.; Bijlsma, Emilia K.; Iwata-Otsubo, Aiko; de Ravel, Thomy J.L.; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stühn, Lara G.; Haack, Tobias B.; Korenke, G. Christoph; Constantinou, Panayiotis; Bujakowska, Kinga M.; Low, Karen J.; Place, Emily; Humberson, Jennifer; Napier, Melanie P.; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A.; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Dortenzio, Victoria; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tüttelmann, Frank; Conrad, Donald F.; O’Donnell-Luria, Anne; Talkowski, Michael E.; FitzPatrick, David R.; Boone, Philip M.
In Human Genetics and Genomics Advances 11 April 2024 5(2)
Academic Journal
In European Journal of Medical Genetics February 2019 62(2):97-102
Academic Journal
de Boer, Elke; Ockeloen, Charlotte W.; Kampen, Rosalie A.; Hampstead, Juliet E.; Dingemans, Alexander J.M.; Rots, Dmitrijs; Lütje, Lukas; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; Angle, Brad; Chatron, Nicolas; Denommé-Pichon, Anne-Sophie; Devinsky, Orrin; Dubourg, Christèle; Elmslie, Frances; Elloumi, Houda Zghal; Faivre, Laurence; Fitzgerald-Butt, Sarah; Geneviève, David; Goos, Jacqueline A.C.; Helm, Benjamin M.; Kini, Usha; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lynch, Sally A.; Mathijssen, Irene M.J.; McGowan, Ruth; Monaghan, Kristin G.; Odent, Sylvie; Pfundt, Rolph; Putoux, Audrey; van Reeuwijk, Jeroen; Santen, Gijs W.E.; Sasaki, Erina; Sorlin, Arthur; van der Spek, Peter J.; Stegmann, Alexander P.A.; Swagemakers, Sigrid M.A.; Valenzuela, Irene; Viora-Dupont, Eléonore; Vitobello, Antonio; Ware, Stephanie M.; Wéber, Mathys; Gilissen, Christian; Low, Karen J.; Fisher, Simon E.; Vissers, Lisenka E.L.M.; Wong, Maggie M.K.; Kleefstra, Tjitske
In Genetics in Medicine November 2023 25(11)
Academic Journal
Meester, Josephina A. N.; Hebert, Anne; Bastiaansen, Maaike; Rabaut, Laura; Bastianen, Jarl; Boeckx, Nele; Ashcroft, Kathryn; Atwal, Paldeep S.; Benichou, Antoine; Billon, Clarisse; Blankensteijn, Jan D.; Brennan, Paul; Bucks, Stephanie A.; Campbell, Ian M.; Conrad, Solene; Curtis, Stephanie L.; Dasouki, Majed; Dent, Carolyn L.; Eden, James; Goel, Himanshu; Hartill, Verity; Houweling, Arjan C.; Isidor, Bertrand; Jackson, Nicola; Koopman, Pieter; Korpioja, Anita; Kraatari-Tiri, Minna; Kuulavainen, Liina; Lee, Kelvin; Low, Karen J.; Lu, Alan C.; McManus, Morgan L.; Oakley, Stephen P.; Oliver, James; Organ, Nicole M.; Overwater, Eline; Revencu, Nicole; Trainer, Alison H.; Trivedi, Bhavya; Turner, Claire L. S.; Whittington, Rebecca; Zankl, Andreas; Zentner, Dominica; Van Laer, Lut; Verstraeten, Aline; Loeys, Bart L.
Academic Journal
Buijsse, Nathan; Jansen, Floor E.; Ockeloen, Charlotte W.; van Kempen, Marjan J. A.; Zeidler, Shimriet; Willemsen, Marjolein H.; Scarano, Emanuela; Monticone, Sonia; Zonneveld‐Huijssoon, Evelien; Low, Karen J.; Bayat, Allan; Sisodiya, Sanjay M.; Samanta, Debopam; Lesca, Gaetan; de Jong, Danielle; Giltay, Jaqcues C.; Verbeek, Nienke E.; Kleefstra, Tjitske; Brilstra, Eva H.; Vlaskamp, Danique R. M.
Epilepsia Open; Dec2023, Vol. 8 Issue 4, p1300-1313, 14p
Academic Journal
Grimes, H.; Ansari, M.; Ashraf, T.; Cueto‐González, Anna Mª.; Calder, A.; Day, M.; Fernandez Alvarez, P.; Foster, A.; Lahiri, N.; Repetto, G. M.; Scurr, I.; Varghese, V.; Low, Karen J.
American Journal of Medical Genetics. Part A; Oct2023, Vol. 191 Issue 10, p2610-2622, 13p
Academic Journal
In Seizure: European Journal of Epilepsy March 2018 56:1-3
Academic Journal
de Boer, Elke; Ockeloen, Charlotte W.; Kampen, Rosalie A.; Hampstead, Juliet E.; Dingemans, Alexander J. M.; Rots, Dmitrijs; Lutje, Lukas; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; Angle, Brad; Chatron, Nicolas; Denomme-Pichon, Anne-Sophie; Devinsky, Orrin; Dubourg, Christele; Elmslie, Frances; Elloumi, Houda Zghal; Faivre, Laurence; Fitzgerald-Butt, Sarah; Genevieve, David; Goos, Jacqueline A. C.; Helm, Benjamin M.; Kini, Usha; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lynch, Sally A.; Mathijssen, Irene M. J.; McGowan, Ruth; Monaghan, Kristin G.; Odent, Sylvie; Pfundt, Rolph; Putoux, Audrey; van Reeuwijk, Jeroen; Santen, Gijs W. E.; Sasaki, Erina; Sorlin, Arthur; van der Spek, Peter J.; Stegmann, Alexander P. A.; Swagemakers, Sigrid M. A.; Valenzuela, Irene; Viora-Dupont, Eleonore; Vitobello, Antonio; Ware, Stephanie M.; Weber, Mathys; Gilissen, Christian; Low, Karen J.; Fisher, Simon E.; Vissers, Lisenka E. L. M.; Wong, Maggie M. K.; Kleefstra, Tjitske
Academic Journal
Post, Merel A.; de Wit, Isis; Zijlstra, Fokje S. M.; Engelke, Udo F. H.; van Rooij, Arno; Christodoulou, John; Tan, Tiong Yang; Le Fevre, Anna; Jin, Danqun; Yaplito‐Lee, Joy; Lee, Beom Hee; Low, Karen J.; Mallick, Andrew A.; Õunap, Katrin; Pitt, James; Reardon, William; Vals, Mari‐Anne; Wortmann, Saskia B.; Wessels, Hans J. C. T.; Bärenfänger, Melissa
Journal of Inherited Metabolic Disease; Mar2023, Vol. 46 Issue 2, p313-325, 13p
PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy.
Academic Journal
Panneerselvam, Sugi; Wang, Julia; Zhu, Wenmiao; Dai, Hongzheng; Pappas, John G.; Rabin, Rachel; Low, Karen J.; Rosenfeld, Jill A.; Emrick, Lisa; Xiao, Rui; Xia, Fan; Yang, Yaping; Eng, Christine M.; Anderson, Anne; Chau, Vann; Soler‐Alfonso, Claudia; Streff, Haley; Lalani, Seema R.; Mercimek‐Andrews, Saadet; Bi, Weimin
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[AR] Low, Karen J.
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