학술논문
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'학술논문'
에서 검색결과 493건 | 목록
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Academic Journal
Reijnders, Margot R.F. ; Seibt, Annette ; Brugger, Melanie ; Lamers, Ideke J.C. ; Ott, Torsten ; Klaas, Oliver ; Horváth, Judit ; Rose, Ailsa M.S. ; Craghill, Isabel M. ; Brunet, Theresa ; Graf, Elisabeth ; Mayerhanser, Katharina ; Hellebrekers, Debby ; Pauck, David ; Neuen-Jacob, Eva ; Rodenburg, Richard J.T. ; Wieczorek, Dagmar ; Klee, Dirk ; Mayatepek, Ertan ; Driessen, Gertjan ; Bindermann, Robert ; Averdunk, Luisa ; Lohmeier, Klaus ; Sinnema, Margje ; Stegmann, Alexander P.A. ; Roepman, Ronald ; Poulter, James A. ; Distelmaier, Felix
In Genetics in Medicine July 2023 25(7)
Academic Journal
Afanasyeva, Tess A.V. ; Athanasiou, Dimitra ; Perdigao, Pedro R.L. ; Whiting, Kae R. ; Duijkers, Lonneke ; Astuti, Galuh D.N. ; Bennett, Jean ; Garanto, Alejandro ; van der Spuy, Jacqueline ; Roepman, Ronald ; Cheetham, Michael E. ; Collin, Rob W.J.
In Molecular Therapy - Methods & Clinical Development 8 June 2023 29:522-531
Academic Journal
Xu, Yongjun ; Liu, Xin ; Cao, Xin ; Huang, Changping ; Liu, Enke ; Qian, Sen ; Liu, Xingchen ; Wu, Yanjun ; Dong, Fengliang ; Qiu, Cheng-Wei ; Qiu, Junjun ; Hua, Keqin ; Su, Wentao ; Wu, Jian ; Xu, Huiyu ; Han, Yong ; Fu, Chenguang ; Yin, Zhigang ; Liu, Miao ; Roepman, Ronald ; Dietmann, Sabine ; Virta, Marko ; Kengara, Fredrick ; Zhang, Ze ; Zhang, Lifu ; Zhao, Taolan ; Dai, Ji ; Yang, Jialiang ; Lan, Liang ; Luo, Ming ; Liu, Zhaofeng ; An, Tao ; Zhang, Bin ; He, Xiao ; Cong, Shan ; Liu, Xiaohong ; Zhang, Wei ; Lewis, James P. ; Tiedje, James M. ; Wang, Qi ; An, Zhulin ; Wang, Fei ; Zhang, Libo ; Huang, Tao ; Lu, Chuan ; Cai, Zhipeng ; Wang, Fang ; Zhang, Jiabao
In The Innovation 28 November 2021 2(4)
Academic Journal
Vriend, Jelle ; Peters, Janny G.P. ; Nieskens, Tom T.G. ; Škovroňová, Renata ; Blaimschein, Nina ; Schmidts, Miriam ; Roepman, Ronald ; Schirris, Tom J.J. ; Russel, Frans G.M. ; Masereeuw, Rosalinde ; Wilmer, Martijn J.
In BBA - General Subjects January 2020 1864(1)
Academic Journal
Frikstad, Kari-Anne M. ; Molinari, Elisa ; Thoresen, Marianne ; Ramsbottom, Simon A. ; Hughes, Frances ; Letteboer, Stef J.F. ; Gilani, Sania ; Schink, Kay O. ; Stokke, Trond ; Geimer, Stefan ; Pedersen, Lotte B. ; Giles, Rachel H. ; Akhmanova, Anna ; Roepman, Ronald ; Sayer, John A. ; Patzke, Sebastian
In Cell Reports 13 August 2019 28(7):1907-1922
Academic Journal
Verbakel, Sanne K. ; van Huet, Ramon A.C. ; Boon, Camiel J.F. ; den Hollander, Anneke I. ; Collin, Rob W.J. ; Klaver, Caroline C.W. ; Hoyng, Carel B. ; Roepman, Ronald ; Klevering, B. Jeroen
In Progress in Retinal and Eye Research September 2018 66:157-186
Academic Journal
Song, Ji Yun ; Aravand, Puya ; Nikonov, Sergei ; Leo, Lanfranco ; Lyubarsky, Arkady ; Bennicelli, Jeannette L. ; Pan, Jieyan ; Wei, Zhangyong ; Shpylchak, Ivan ; Herrera, Pamela ; Bennett, Daniel J. ; Commins, Nicoletta ; Maguire, Albert M. ; Pham, Jennifer ; den Hollander, Anneke I. ; Cremers, Frans P.M. ; Koenekoop, Robert K. ; Roepman, Ronald ; Nishina, Patsy ; Zhou, Shangzhen ; Pan, Wei ; Ying, Gui-shuang ; Aleman, Tomas S. ; de Melo, Jimmy ; McNamara, Ilan ; Sun, Junwei ; Mills, Jason ; Bennett, Jean
In Molecular Therapy 6 June 2018 26(6):1581-1593
Academic Journal
Academic Journal
Van De Weghe, Julie C. ; Rusterholz, Tamara D.S. ; Latour, Brooke ; Grout, Megan E. ; Aldinger, Kimberly A. ; Shaheen, Ranad ; Dempsey, Jennifer C. ; Maddirevula, Sateesh ; Cheng, Yong-Han H. ; Phelps, Ian G. ; Gesemann, Matthias ; Goel, Himanshu ; Birk, Ohad S. ; Alanzi, Talal ; Rawashdeh, Rifaat ; Khan, Arif O. ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Neuhauss, Stephan C.F. ; Dobyns, William B. ; Alkuraya, Fowzan S. ; Roepman, Ronald ; Bachmann-Gagescu, Ruxandra ; Doherty, Dan
In The American Journal of Human Genetics 6 July 2017 101(1):23-36
Academic Journal
Oud, Machteld M. ; Tuijnenburg, Paul ; Hempel, Maja ; van Vlies, Naomi ; Ren, Zemin ; Ferdinandusse, Sacha ; Jansen, Machiel H. ; Santer, René ; Johannsen, Jessika ; Bacchelli, Chiara ; Alders, Marielle ; Li, Rui ; Davies, Rosalind ; Dupuis, Lucie ; Cale, Catherine M. ; Wanders, Ronald J.A. ; Pals, Steven T. ; Ocaka, Louise ; James, Chela ; Müller, Ingo ; Lehmberg, Kai ; Strom, Tim ; Engels, Hartmut ; Williams, Hywel J. ; Beales, Phil ; Roepman, Ronald ; Dias, Patricia ; Brunner, Han G. ; Cobben, Jan-Maarten ; Hall, Christine ; Hartley, Taila ; Le Quesne Stabej, Polona ; Mendoza-Londono, Roberto ; Davies, E. Graham ; de Sousa, Sérgio B. ; Lessel, Davor ; Arts, Heleen H. ; Kuijpers, Taco W.
In The American Journal of Human Genetics 2 February 2017 100(2):281-296
Academic Journal
Lokaj, Mandy ; Kösling, Stefanie K. ; Koerner, Carolin ; Lange, Sven M. ; van Beersum, Sylvia E.C. ; van Reeuwijk, Jeroen ; Roepman, Ronald ; Horn, Nicola ; Ueffing, Marius ; Boldt, Karsten ; Wittinghofer, Alfred
In Structure 3 November 2015 23(11):2122-2132
Academic Journal
Hjeij, Rim ; Onoufriadis, Alexandros ; Watson, Christopher M. ; Slagle, Christopher E. ; Klena, Nikolai T. ; Dougherty, Gerard W. ; Kurkowiak, Małgorzata ; Loges, Niki T. ; Diggle, Christine P. ; Morante, Nicholas F.C. ; Gabriel, George C. ; Lemke, Kristi L. ; Li, You ; Pennekamp, Petra ; Menchen, Tabea ; Konert, Franziska ; Marthin, June Kehlet ; Mans, Dorus A. ; Letteboer, Stef J.F. ; Werner, Claudius ; Burgoyne, Thomas ; Westermann, Cordula ; Rutman, Andrew ; Carr, Ian M. ; O’Callaghan, Christopher ; Moya, Eduardo ; Chung, Eddie M.K. ; Sheridan, Eamonn ; Nielsen, Kim G. ; Roepman, Ronald ; Bartscherer, Kerstin ; Burdine, Rebecca D. ; Lo, Cecilia W. ; Omran, Heymut ; Mitchison, Hannah M.
In The American Journal of Human Genetics 4 September 2014 95(3):257-274
Academic Journal
Boldt, Karsten; de Baere, Elfride; Klaver, Caroline C.W.; Coppieters, Frauke; Koolen, David A.; Lugtenberg, Dorien; Neveling, Kornelia; van Reeuwijk, Jeroen; Ueffing, Marius; van Beersum, Sylvia E.C.; Zonneveld-Vrieling, Marijke N.; Roosing, Susanne ; Lamers, Ideke J.C. ; de Vrieze, Erik ; van den Born, L. Ingeborgh ; Lambertus, Stanley ; Arts, Heleen H. ; Peters, Theo A. ; Hoyng, Carel B. ; Kremer, Hannie ; Hetterschijt, Lisette ; Letteboer, Stef J.F. ; van Wijk, Erwin ; Roepman, Ronald ; den Hollander, Anneke I. ; Cremers, Frans P.M.
In The American Journal of Human Genetics 7 August 2014 95(2):131-142
Academic Journal
Texier, Yves ; Toedt, Grischa ; Gorza, Matteo ; Mans, Dorus A. ; van Reeuwijk, Jeroen ; Horn, Nicola ; Willer, Jason ; Katsanis, Nicholas ; Roepman, Ronald ; Gibson, Toby J. ; Ueffing, Marius ; Boldt, Karsten
In Molecular & Cellular Proteomics May 2014 13(5):1382-1391
Academic Journal
In Trends in Molecular Medicine May 2014 20(5):261-270
Academic Journal
Chaki, Moumita ; Airik, Rannar ; Ghosh, Amiya K. ; Giles, Rachel H. ; Chen, Rui ; Slaats, Gisela G. ; Wang, Hui ; Hurd, Toby W. ; Zhou, Weibin ; Cluckey, Andrew ; Gee, Heon Yung ; Ramaswami, Gokul ; Hong, Chen-Jei ; Hamilton, Bruce A. ; Červenka, Igor ; Ganji, Ranjani Sri ; Bryja, Vitezslav ; Arts, Heleen H. ; van Reeuwijk, Jeroen ; Oud, Machteld M. ; Letteboer, Stef J.F. ; Roepman, Ronald ; Husson, Hervé ; Ibraghimov-Beskrovnaya, Oxana ; Yasunaga, Takayuki ; Walz, Gerd ; Eley, Lorraine ; Sayer, John A. ; Schermer, Bernhard ; Liebau, Max C. ; Benzing, Thomas ; Le Corre, Stephanie ; Drummond, Iain ; Janssen, Sabine ; Allen, Susan J. ; Natarajan, Sivakumar ; O’Toole, John F. ; Attanasio, Massimo ; Saunier, Sophie ; Antignac, Corinne ; Koenekoop, Robert K. ; Ren, Huanan ; Lopez, Irma ; Nayir, Ahmet ; Stoetzel, Corinne ; Dollfus, Helene ; Massoudi, Rustin ; Gleeson, Joseph G. ; Andreoli, Sharon P. ; Doherty, Dan G. ; Lindstrad, Anna ; Golzio, Christelle ; Katsanis, Nicholas ; Pape, Lars ; Abboud, Emad B. ; Al-Rajhi, Ali A. ; Lewis, Richard A. ; Omran, Heymut ; Lee, Eva Y.-H.P. ; Wang, Shaohui ; Sekiguchi, JoAnn M. ; Saunders, Rudel ; Johnson, Colin A. ; Garner, Elizabeth ; Vanselow, Katja ; Andersen, Jens S. ; Shlomai, Joseph ; Nurnberg, Gudrun ; Nurnberg, Peter ; Levy, Shawn ; Smogorzewska, Agata ; Otto, Edgar A. ; Hildebrandt, Friedhelm
In Cell 3 August 2012 150(3):533-548
Academic Journal
Faber, Siebren; Letteboer, Stef J. F.; Junger, Katrin; Butcher, Rossano; Tammana, Trinadh V. Satish; van Beersum, Sylvia E. C.; Ueffing, Marius; Collin, Rob W. J.; Liu, Qin; Boldt, Karsten; Roepman, Ronald
Academic Journal
Claus, Laura R.; Snoek, Rozemarijn; Faber, Siebren; Roskothen-Shevchuk, Aurelius J. C.; Garvi, Elena Sendino; Peters, Edith D. J.; Savelberg, Sanne M. C.; Duran, Karen; van der Zwaag, Bert; Nguyen, Tri Q.; Broekhuizen, Roel; Brummelhuis, Walter J.; Rookmaaker, Maarten; van der Veen, Suzanne W.; Elferink, Martin G.; Karras, Alexandre; Raymond, Laure; Mousseaux, Cyril; Sadeghi-Alavijeh, Omid; Sayer, John A.; Olinger, Eric; Neatu, Ruxandra; Klambt, Verena; Stokman, Marijn F.; Knoers, Nine V. A. M.; Tessadori, Federico; Gale, Daniel P.; Boldt, Karsten; Ueffing, Marius; Slaats, Gisela G.; Roepman, Ronald; Hildebrandt, Friedhelm; Mesnard, Laurent; van Haaften, Gijs; van Eerde, Albertien M.
Academic Journal
Mitsuishi, Yachiyo ; Hasegawa, Hiroshi ; Matsuo, Akinori ; Araki, Wataru ; Suzuki, Toshiharu ; Tagami, Shinji ; Okochi, Masayasu ; Takeda, Masatoshi ; Roepman, Ronald ; Nishimura, Masaki
In Journal of Biological Chemistry 14 May 2010 285(20):14920-14931
Academic Journal
Athanasiou, Dimitra; Afanasyeva, Tess A. V.; Chai, Niuzheng; Ziaka, Kalliopi; Jovanovic, Katarina; Guarascio, Rosellina; Boldt, Karsten; Corral-Serrano, Julio C.; Kanuga, Naheed; Roepman, Ronald; Collin, Rob W. J.; Cheetham, Michael E.
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