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Biochimica et biophysica acta. General subjects, 2021-08, Vol.1865 (8), p.129898-129898, Article 129898
2021
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European journal of medical genetics, 2018-11, Vol.61 (11), p.643-663
2018
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Current opinion in structural biology, 2019-06, Vol.56, p.107-118
2019
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Translational research : the journal of laboratory and clinical medicine, 2015-12, Vol.166 (6), p.639-649.e1
2015
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American journal of human genetics, 2013-07, Vol.93 (1), p.29-41
- Carss, Keren J.
- Stevens, Elizabeth
- Foley, A. Reghan
- Cirak, Sebahattin
- Riemersma, Moniek
- Torelli, Silvia
- Hoischen, Alexander
- Willer, Tobias
- van Scherpenzeel, Monique
- Moore, Steven A.
- Messina, Sonia
- Bertini, Enrico
- Bönnemann, Carsten G.
- Abdenur, Jose E.
- Grosmann, Carla M.
- Kesari, Akanchha
- Punetha, Jaya
- Quinlivan, Ros
- Waddell, Leigh B.
- Young, Helen K.
- Wraige, Elizabeth
- Yau, Shu
- Brodd, Lina
- Feng, Lucy
- Sewry, Caroline
- MacArthur, Daniel G.
- North, Kathryn N.
- Hoffman, Eric
- Stemple, Derek L.
- Hurles, Matthew E.
- van Bokhoven, Hans
- Campbell, Kevin P.
- Lefeber, Dirk J.
- Lin, Yung-Yao
- Muntoni, Francesco
2013
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American journal of human genetics, 2016-02, Vol.98 (2), p.322-330
- Jansen, Jos C.
- Timal, Sharita
- van Scherpenzeel, Monique
- Michelakakis, Helen
- Vicogne, Dorothée
- Ashikov, Angel
- Moraitou, Marina
- Hoischen, Alexander
- Huijben, Karin
- Steenbergen, Gerry
- van den Boogert, Marjolein A.W.
- Porta, Francesco
- Calvo, Pier Luigi
- Mavrikou, Mersyni
- Cenacchi, Giovanna
- van den Bogaart, Geert
- Salomon, Jody
- Holleboom, Adriaan G.
- Rodenburg, Richard J.
- Drenth, Joost P.H.
- Huynen, Martijn A.
- Wevers, Ron A.
- Morava, Eva
- Foulquier, François
- Veltman, Joris A.
- Lefeber, Dirk J.
2016
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Cell, 2010-07, Vol.142 (2), p.203-217
- Cantagrel, Vincent
- Lefeber, Dirk J.
- Ng, Bobby G.
- Guan, Ziqiang
- Silhavy, Jennifer L.
- Bielas, Stephanie L.
- Lehle, Ludwig
- Hombauer, Hans
- Adamowicz, Maciej
- Swiezewska, Ewa
- De Brouwer, Arjan P.
- Blümel, Peter
- Sykut-Cegielska, Jolanta
- Houliston, Scott
- Swistun, Dominika
- Ali, Bassam R.
- Dobyns, William B.
- Babovic-Vuksanovic, Dusica
- van Bokhoven, Hans
- Wevers, Ron A.
- Raetz, Christian R.H.
- Freeze, Hudson H.
- Morava, Éva
- Al-Gazali, Lihadh
- Gleeson, Joseph G.
2010
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Biochimica et biophysica acta, 2016-08, Vol.1860 (8), p.1640-1654
2016
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Clinica chimica acta, 2016-10, Vol.461, p.90-97
2016
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Biochimica et biophysica acta. General subjects, 2019-10, Vol.1863 (10), p.1471-1479
2019
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American journal of human genetics, 2016-02, Vol.98 (2), p.310-321
- Jansen, Jos C.
- Cirak, Sebahattin
- van Scherpenzeel, Monique
- Timal, Sharita
- Reunert, Janine
- Rust, Stephan
- Pérez, Belén
- Vicogne, Dorothée
- Krawitz, Peter
- Wada, Yoshinao
- Ashikov, Angel
- Pérez-Cerdá, Celia
- Medrano, Celia
- Arnoldy, Andrea
- Hoischen, Alexander
- Huijben, Karin
- Steenbergen, Gerry
- Quelhas, Dulce
- Diogo, Luisa
- Rymen, Daisy
- Jaeken, Jaak
- Guffon, Nathalie
- Cheillan, David
- van den Heuvel, Lambertus P.
- Maeda, Yusuke
- Kaiser, Olaf
- Schara, Ulrike
- Gerner, Patrick
- van den Boogert, Marjolein A.W.
- Holleboom, Adriaan G.
- Nassogne, Marie-Cécile
- Sokal, Etienne
- Salomon, Jody
- van den Bogaart, Geert
- Drenth, Joost P.H.
- Huynen, Martijn A.
- Veltman, Joris A.
- Wevers, Ron A.
- Morava, Eva
- Matthijs, Gert
- Foulquier, François
- Marquardt, Thorsten
- Lefeber, Dirk J.
2016
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Molecular genetics and metabolism, 2024-07, Vol.142 (3), p.108511, Article 108511
- Morales-Romero, Blai
- Muñoz-Pujol, Gerard
- Artuch, Rafael
- García-Cazorla, Angels
- O'Callaghan, Mar
- Sykut-Cegielska, Jolanta
- Campistol, Jaume
- Moreno-Lozano, Pedro Juan
- Oud, Machteld M.
- Wevers, Ron A.
- Lefeber, Dirk J.
- Esteve-Codina, Anna
- Yepez, Vicente A.
- Gagneur, Julien
- Wortmann, Saskia B.
- Prokisch, Holger
- Ribes, Antonia
- García-Villoria, Judit
- Tort, Frederic
2024
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Cell metabolism, 2011-12, Vol.14 (6), p.811-818
- Holleboom, Adriaan G.
- Karlsson, Helen
- Lin, Ruei-Shiuan
- Beres, Thomas M.
- Sierts, Jeroen A.
- Herman, Daniel S.
- Stroes, Erik S.G.
- Aerts, Johannes M.
- Kastelein, John J.P.
- Motazacker, Mohammad M.
- Dallinga-Thie, Geesje M.
- Levels, Johannes H.M.
- Zwinderman, Aeilko H.
- Seidman, Jonathan G.
- Seidman, Christine E.
- Ljunggren, Stefan
- Lefeber, Dirk J.
- Morava, Eva
- Wevers, Ron A.
- Fritz, Timothy A.
- Tabak, Lawrence A.
- Lindahl, Mats
- Hovingh, G. Kees
- Kuivenhoven, Jan Albert
2011
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American journal of human genetics, 2021-07, Vol.108 (7), p.1342-1349
- Polla, Daniel L.
- Edmondson, Andrew C.
- Duvet, Sandrine
- March, Michael E.
- Sousa, Ana Berta
- Lehman, Anna
- Niyazov, Dmitriy
- van Dijk, Fleur
- Demirdas, Serwet
- van Slegtenhorst, Marjon A.
- Kievit, Anneke J.A.
- Schulz, Celine
- Armstrong, Linlea
- Bi, Xin
- Rader, Daniel J.
- Izumi, Kosuke
- Zackai, Elaine H.
- de Franco, Elisa
- Jorge, Paula
- Huffels, Sophie C.
- Hommersom, Marina
- Ellard, Sian
- Lefeber, Dirk J.
- Santani, Avni
- Hand, Nicholas J.
- van Bokhoven, Hans
- He, Miao
- de Brouwer, Arjan P.M.
2021
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American journal of human genetics, 2009-07, Vol.85 (1), p.76-86
- Lefeber, Dirk J.
- Schönberger, Johannes
- Morava, Eva
- Guillard, Mailys
- Huyben, Karin M.
- Verrijp, Kiek
- Grafakou, Olga
- Evangeliou, Athanasios
- Preijers, Frank W.
- Manta, Panagiota
- Yildiz, Jef
- Grünewald, Stephanie
- Spilioti, Martha
- van den Elzen, Christa
- Klein, Dominique
- Hess, Daniel
- Ashida, Hisashi
- Hofsteenge, Jan
- Maeda, Yusuke
- van den Heuvel, Lambert
- Lammens, Martin
- Lehle, Ludwig
- Wevers, Ron A.
2009
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American journal of human genetics, 2021-11, Vol.108 (11), p.2130-2144
- Wilson, Matthew P.
- Garanto, Alejandro
- Pinto e Vairo, Filippo
- Ng, Bobby G.
- Ranatunga, Wasantha K.
- Ventouratou, Marina
- Baerenfaenger, Melissa
- Huijben, Karin
- Thiel, Christian
- Ashikov, Angel
- Keldermans, Liesbeth
- Souche, Erika
- Vuillaumier-Barrot, Sandrine
- Dupré, Thierry
- Michelakakis, Helen
- Fiumara, Agata
- Pitt, James
- White, Susan M.
- Lim, Sze Chern
- Gallacher, Lyndon
- Peters, Heidi
- Rymen, Daisy
- Witters, Peter
- Ribes, Antonia
- Morales-Romero, Blai
- Rodríguez-Palmero, Agustí
- Ballhausen, Diana
- de Lonlay, Pascale
- Barone, Rita
- Janssen, Mirian C.H.
- Jaeken, Jaak
- Freeze, Hudson H.
- Matthijs, Gert
- Morava, Eva
- Lefeber, Dirk J.
2021
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American journal of human genetics, 2012-12, Vol.91 (6), p.1073-1081
- Schuurs-Hoeijmakers, Janneke H M
- Geraghty, Michael T
- Kamsteeg, Erik-Jan
- Ben-Salem, Salma
- de Bot, Susanne T
- Nijhof, Bonnie
- van de Vondervoort, Ilse I G M
- van der Graaf, Marinette
- Nobau, Anna Castells
- Otte-Höller, Irene
- Vermeer, Sascha
- Smith, Amanda C
- Humphreys, Peter
- Schwartzentruber, Jeremy
- Ali, Bassam R
- Al-Yahyaee, Saeed A
- Tariq, Said
- Pramathan, Thachillath
- Bayoumi, Riad
- Kremer, Hubertus P H
- van de Warrenburg, Bart P
- van den Akker, Willem M R
- Gilissen, Christian
- Veltman, Joris A
- Janssen, Irene M
- Vulto-van Silfhout, Anneke T
- van der Velde-Visser, Saskia
- Lefeber, Dirk J
- Diekstra, Adinda
- Erasmus, Corrie E
- Willemsen, Michèl A
- Vissers, Lisenka E L M
- Lammens, Martin
- van Bokhoven, Hans
- Brunner, Han G
- Wevers, Ron A
- Schenck, Annette
- Al-Gazali, Lihadh
- de Vries, Bert B A
- de Brouwer, Arjan P M
2012
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Biochimica et biophysica acta. Molecular basis of disease, 2017-12, Vol.1863 (12), p.3303-3312
2017
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Experimental eye research, 2021-12, Vol.213, p.108798-108798, Article 108798
2021
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Neuroscience letters, 2015-07, Vol.599, p.75-80
2015
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Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.135-146
- Conte, Federica
- Morava, Eva
- Bakar, Nurulamin Abu
- Wortmann, Saskia B.
- Poerink, Anne Jonge
- Grunewald, Stephanie
- Crushell, Ellen
- Al-Gazali, Lihadh
- de Vries, Maaike C.
- Mørkrid, Lars
- Hertecant, Jozef
- Brocke Holmefjord, Katja S.
- Kronn, David
- Feigenbaum, Annette
- Fingerhut, Ralph
- Wong, Sunnie Y.
- van Scherpenzeel, Monique
- Voermans, Nicol C.
- Lefeber, Dirk J.
2020
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Translational research : the journal of laboratory and clinical medicine, 2018-09, Vol.199, p.62-76
2018
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The Journal of pediatrics, 2016-08, Vol.175, p.130-136.e8
- Wong, Sunnie Yan-Wai, BA
- Beamer, Lesa J., PhD
- Gadomski, Therese, BS
- Honzik, Tomas, MD, PhD
- Mohamed, Miski, MD, PhD
- Wortmann, Saskia B., MD, PhD
- Brocke Holmefjord, Katja S., MD
- Mork, Marit, MD
- Bowling, Francis, MD, PhD
- Sykut-Cegielska, Jolanta, MD, PhD
- Koch, Dieter, MD
- Ackermann, Amanda, MD, PhD
- Stanley, Charles A., MD
- Rymen, Daisy, MD, PhD
- Zeharia, Avraham, MD
- Al-Sayed, Moeen, MD
- Marquardt, Thomas, MD
- Jaeken, Jaak, MD, PhD
- Lefeber, Dirk, PhD
- Conrad, Donald F., PhD
- Kozicz, Tamas, MD, PhD
- Morava, Eva, MD, PhD
2016
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Journal of hepatology, 2010-03, Vol.52 (3), p.432-440
2010
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American journal of human genetics, 2020-08, Vol.107 (2), p.374-374
- Van Damme, Tim
- Gardeitchik, Thatjana
- Mohamed, Miski
- Guerrero-Castillo, Sergio
- Freisinger, Peter
- Guillemyn, Brecht
- Kariminejad, Ariana
- Dalloyaux, Daisy
- van Kraaij, Sanne
- Lefeber, Dirk J.
- Syx, Delfien
- Steyaert, Wouter
- De Rycke, Riet
- Hoischen, Alexander
- Kamsteeg, Erik-Jan
- Wong, Sunnie Y.
- van Scherpenzeel, Monique
- Jamali, Payman
- Brandt, Ulrich
- Nijtmans, Leo
- Korenke, G. Christoph
- Chung, Brian H.Y.
- Mak, Christopher C.Y.
- Hausser, Ingrid
- Kornak, Uwe
- Fischer-Zirnsak, Björn
- Strom, Tim M.
- Meitinger, Thomas
- Alanay, Yasemin
- Utine, Gulen E.
- Leung, Kai Ching Peter
- Ghaderi-Sohi, Siavash
- Coucke, Paul
- Symoens, Sofie
- De Paepe, Anne
- Thiel, Christian
- Haack, Tobias B.
- Malfait, Fransiska
- Morava, Eva
- Callewaert, Bert
- Wevers, Ron A.
2020
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