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Trends in molecular medicine, 2014-05, Vol.20 (5), p.261-270
2014
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American journal of human genetics, 2014-09, Vol.95 (3), p.257-274
- 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.
2014
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American journal of human genetics, 2017-02, Vol.100 (2), p.281-296
- 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.
2017
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European journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1677-1689
2021
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Human molecular genetics, 2008-01, Vol.17 (1), p.71-86
2008
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American journal of human genetics, 2017-11, Vol.101 (5), p.824-832
- Lamers, Ideke J.C.
- Reijnders, Margot R.F.
- Venselaar, Hanka
- Kraus, Alison
- Jansen, Sandra
- de Vries, Bert B.A.
- Houge, Gunnar
- Gradek, Gyri Aasland
- Seo, Jieun
- Choi, Murim
- Chae, Jong-Hee
- van der Burgt, Ineke
- Pfundt, Rolph
- Letteboer, Stef J.F.
- van Beersum, Sylvia E.C.
- Dusseljee, Simone
- Brunner, Han G.
- Doherty, Dan
- Kleefstra, Tjitske
- Roepman, Ronald
2017
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Cell reports (Cambridge), 2019-08, Vol.28 (7), p.1907-1922.e6
2019
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Sub-cellular biochemistry, 2007, Vol.43, p.209
2007
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Human molecular genetics, 2015-03, Vol.24 (6), p.1584-1601
2015
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The Journal of clinical investigation, 2011-06, Vol.121 (6), p.2169-2180
- Boldt, Karsten
- Mans, Dorus A
- Won, Jungyeon
- van Reeuwijk, Jeroen
- Vogt, Andreas
- Kinkl, Norbert
- Letteboer, Stef J F
- Hicks, Wanda L
- Hurd, Ron E
- Naggert, Jürgen K
- Texier, Yves
- den Hollander, Anneke I
- Koenekoop, Robert K
- Bennett, Jean
- Cremers, Frans P M
- Gloeckner, Christian J
- Nishina, Patsy M
- Roepman, Ronald
- Ueffing, Marius
2011
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Human molecular genetics, 2014-08, Vol.23 (15), p.3923-3942
2014
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Molecular & cellular proteomics, 2014-05, Vol.13 (5), p.1382-1391
2014
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Experimental eye research, 2008-05, Vol.86 (5), p.713-726
2008
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Scientific reports, 2015-07, Vol.5 (1), p.11649-11649, Article 11649
2015
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Human molecular genetics, 2006-10, Vol.15 (suppl-2), p.R235-R243
2006
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Proceedings of the National Academy of Sciences - PNAS, 2005-12, Vol.102 (51), p.18520-18525
2005
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Human mutation, 2004-11, Vol.24 (5), p.355-369
2004
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The Journal of biological chemistry, 2008-12, Vol.283 (50), p.34753-34761
2008
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Methods in molecular biology (Clifton, N.J.), 2008, Vol.484, p.145
2008
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Investigative ophthalmology & visual science, 2005-06, Vol.46 (6), p.2192-2201
2005
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Nature communications, 2016-05, Vol.7 (1), p.11491-11491, Article 11491
- Boldt, Karsten
- van Reeuwijk, Jeroen
- Lu, Qianhao
- Koutroumpas, Konstantinos
- Nguyen, Thanh-Minh T
- Texier, Yves
- van Beersum, Sylvia E C
- Horn, Nicola
- Willer, Jason R
- Mans, Dorus A
- Dougherty, Gerard
- Lamers, Ideke J C
- Coene, Karlien L M
- Arts, Heleen H
- Betts, Matthew J
- Beyer, Tina
- Bolat, Emine
- Gloeckner, Christian Johannes
- Haidari, Khatera
- Hetterschijt, Lisette
- Iaconis, Daniela
- Jenkins, Dagan
- Klose, Franziska
- Knapp, Barbara
- Latour, Brooke
- Letteboer, Stef J F
- Marcelis, Carlo L
- Mitic, Dragana
- Morleo, Manuela
- Oud, Machteld M
- Riemersma, Moniek
- Rix, Susan
- Terhal, Paulien A
- Toedt, Grischa
- van Dam, Teunis J P
- de Vrieze, Erik
- Wissinger, Yasmin
- Wu, Ka Man
- Apic, Gordana
- Beales, Philip L
- Blacque, Oliver E
- Gibson, Toby J
- Huynen, Martijn A
- Katsanis, Nicholas
- Kremer, Hannie
- Omran, Heymut
- van Wijk, Erwin
- Wolfrum, Uwe
- Kepes, François
- Davis, Erica E
- Franco, Brunella
- Giles, Rachel H
- Ueffing, Marius
- Russell, Robert B
- Roepman, Ronald
2016
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The Journal of biological chemistry, 1999-12, Vol.274 (52), p.37370-37378
1999
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Cell, 2012-08, Vol.150 (3), p.533-548
- 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
2012
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Nature communications, 2020-11, Vol.11 (1), p.5520-5520, Article 5520
- Dougherty, Gerard W.
- Mizuno, Katsutoshi
- Nöthe-Menchen, Tabea
- Ikawa, Yayoi
- Boldt, Karsten
- Ta-Shma, Asaf
- Aprea, Isabella
- Minegishi, Katsura
- Pang, Yuan-Ping
- Pennekamp, Petra
- Loges, Niki T.
- Raidt, Johanna
- Hjeij, Rim
- Wallmeier, Julia
- Mussaffi, Huda
- Perles, Zeev
- Elpeleg, Orly
- Rabert, Franziska
- Shiratori, Hidetaka
- Letteboer, Stef J.
- Horn, Nicola
- Young, Samuel
- Strünker, Timo
- Stumme, Friederike
- Werner, Claudius
- Olbrich, Heike
- Takaoka, Katsuyoshi
- Ide, Takahiro
- Twan, Wang Kyaw
- Biebach, Luisa
- Große-Onnebrink, Jörg
- Klinkenbusch, Judith A.
- Praveen, Kavita
- Bracht, Diana C.
- Höben, Inga M.
- Junger, Katrin
- Gützlaff, Jana
- Cindrić, Sandra
- Aviram, Micha
- Kaiser, Thomas
- Memari, Yasin
- Dzeja, Petras P.
- Dworniczak, Bernd
- Ueffing, Marius
- Roepman, Ronald
- Bartscherer, Kerstin
- Katsanis, Nicholas
- Davis, Erica E.
- Amirav, Israel
- Hamada, Hiroshi
- Omran, Heymut
2020
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American journal of human genetics, 2017-07, Vol.101 (1), p.23-36
- 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
2017
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