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Nature communications, 2021-10, Vol.12 (1), p.6227-6227, Article 6227
2021
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Nature genetics, 2016-07, Vol.48 (7), p.777-784
- van Karnebeek, Clara D M
- Bonafé, Luisa
- Wen, Xiao-Yan
- Tarailo-Graovac, Maja
- Balzano, Sara
- Royer-Bertrand, Beryl
- Ashikov, Angel
- Garavelli, Livia
- Mammi, Isabella
- Turolla, Licia
- Breen, Catherine
- Donnai, Dian
- Cormier-Daire, Valérie
- Heron, Delphine
- Nishimura, Gen
- Uchikawa, Shinichi
- Campos-Xavier, Belinda
- Rossi, Antonio
- Hennet, Thierry
- Brand-Arzamendi, Koroboshka
- Rozmus, Jacob
- Harshman, Keith
- Stevenson, Brian J
- Girardi, Enrico
- Superti-Furga, Giulio
- Dewan, Tammie
- Collingridge, Alissa
- Halparin, Jessie
- Ross, Colin J
- Van Allen, Margot I
- Rossi, Andrea
- Engelke, Udo F
- Kluijtmans, Leo A J
- van der Heeft, Ed
- Renkema, Herma
- de Brouwer, Arjan
- Huijben, Karin
- Zijlstra, Fokje
- Heise, Torben
- Boltje, Thomas
- Wasserman, Wyeth W
- Rivolta, Carlo
- Unger, Sheila
- Lefeber, Dirk J
- Wevers, Ron A
- Superti-Furga, Andrea
2016
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Proceedings of the National Academy of Sciences - PNAS, 2015-01, Vol.112 (1), p.291-296
2015
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Computational and structural biotechnology journal, 2014-06, Vol.10 (16), p.23-32
2014
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Clinical chemistry (Baltimore, Md.), 2019-10, Vol.65 (10), p.1295-1306
2019
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Journal of medical genetics, 2013-11, Vol.50 (11), p.733-739
2013
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Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.553-564
- Vals, Mari‐Anne
- Ashikov, Angel
- Ilves, Pilvi
- Loorits, Dagmar
- Zeng, Qiang
- Barone, Rita
- Huijben, Karin
- Sykut‐Cegielska, Jolanta
- Diogo, Luísa
- Elias, Abdallah F.
- Greenwood, Robert S.
- Grunewald, Stephanie
- van Hasselt, Peter M.
- van de Kamp, Jiddeke M.
- Mancini, Grazia
- Okninska, Agnieszka
- Pajusalu, Sander
- Rudd, Pauline M.
- Rustad, Cecilie F.
- Salvarinova, Ramona
- de Vries, Bert B.A.
- Wolf, Nicole I.
- Ng, Bobby G.
- Freeze, Hudson H.
- Lefeber, Dirk J.
- Õunap, Katrin
2019
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International journal of molecular sciences, 2023-05, Vol.24 (9), p.8247
2023
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Neurology, 2013-08, Vol.81 (7), p.681
2013
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The Journal of biological chemistry, 2005-07, Vol.280 (29), p.27230-27235
2005
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JIMD reports, 2019-11, Vol.50 (1), p.31-39
2019
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The Journal of biological chemistry, 2009-01, Vol.284 (4), p.2576-2583
2009
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Carbohydrate research, 2008-08, Vol.343 (12), p.2148-2152
2008
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Glycobiology (Oxford), 2005-10, Vol.15 (10), p.905-911
2005
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Molecular cell, 2013-04, Vol.50 (2), p.295-302
2013
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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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Developmental medicine and child neurology, 2016-10, Vol.58 (10), p.1085-1091
- Barba, Carmen
- Darra, Francesca
- Cusmai, Raffaella
- Procopio, Elena
- Dionisi Vici, Carlo
- Keldermans, Liesbeth
- Vuillaumier‐Barrot, Sandrine
- Lefeber, Dirk J
- Guerrini, Renzo
- Parrini, Elena
- Ashikov, Angel
- Bordugo, Andrea
- Cantalupo, Gaetano
- Casara, Gianluca
- Bernardina, Bernardo Dalla
- Falchi, Melania
- Ferri, Lorenzo
- Martinelli, Diego
- Morrone, Amelia
- Race, Valerie
- Rosati, Anna
- Souche, Erika
2016
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Nature communications, 2016-05, Vol.7 (1), p.11600-11600, Article 11600
- Jansen, Eric J R
- Timal, Sharita
- Ryan, Margret
- Ashikov, Angel
- van Scherpenzeel, Monique
- Graham, Laurie A
- Mandel, Hanna
- Hoischen, Alexander
- Iancu, Theodore C
- Raymond, Kimiyo
- Steenbergen, Gerry
- Gilissen, Christian
- Huijben, Karin
- van Bakel, Nick H M
- Maeda, Yusuke
- Rodenburg, Richard J
- Adamowicz, Maciej
- Crushell, Ellen
- Koenen, Hans
- Adams, Darius
- Vodopiutz, Julia
- Greber-Platzer, Susanne
- Müller, Thomas
- Dueckers, Gregor
- Morava, Eva
- Sykut-Cegielska, Jolanta
- Martens, Gerard J M
- Wevers, Ron A
- Niehues, Tim
- Huynen, Martijn A
- Veltman, Joris A
- Stevens, Tom H
- Lefeber, Dirk J
2016
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Hepatology (Baltimore, Md.), 2020-12, Vol.72 (6), p.1968-1986
- Cannata Serio, Magda
- Graham, Laurie A.
- Ashikov, Angel
- Larsen, Lars Elmann
- Raymond, Kimiyo
- Timal, Sharita
- Le Meur, Gwenn
- Ryan, Margret
- Czarnowska, Elzbieta
- Jansen, Jos C.
- He, Miao
- Ficicioglu, Can
- Pichurin, Pavel
- Hasadsri, Linda
- Minassian, Berge
- Rugierri, Alessandra
- Kalimo, Hannu
- Ríos‐Ocampo, W. Alfredo
- Gilissen, Christian
- Rodenburg, Richard
- Jonker, Johan W.
- Holleboom, Adriaan G.
- Morava, Eva
- Veltman, Joris A.
- Socha, Piotr
- Stevens, Tom H.
- Simons, Matias
- Lefeber, Dirk J.
2020
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Biochimica et biophysica acta. General subjects, 2019-10, Vol.1863 (10), p.1471-1479
2019
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The New England journal of medicine, 2009-01, Vol.360 (1), p.32-43
- Boztug, Kaan
- Appaswamy, Giridharan
- Ashikov, Angel
- Schäffer, Alejandro A
- Salzer, Ulrich
- Diestelhorst, Jana
- Germeshausen, Manuela
- Brandes, Gudrun
- Lee-Gossler, Jacqueline
- Noyan, Fatih
- Gatzke, Anna-Katherina
- Minkov, Milen
- Greil, Johann
- Kratz, Christian
- Petropoulou, Theoni
- Pellier, Isabelle
- Bellanné-Chantelot, Christine
- Rezaei, Nima
- Mönkemöller, Kirsten
- Irani-Hakimeh, Noha
- Bakker, Hans
- Gerardy-Schahn, Rita
- Zeidler, Cornelia
- Grimbacher, Bodo
- Welte, Karl
- Klein, Christoph
2009
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The FASEB journal, 2013-04, Vol.27 (S1)
2013
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Glycobiology (Oxford), 2022-03, Vol.32 (3), p.239-250
- van Scherpenzeel, Monique
- Conte, Federica
- Büll, Christian
- Ashikov, Angel
- Hermans, Esther
- Willems, Anke
- van Tol, Walinka
- Kragt, Else
- Noga, Marek
- Moret, Ed E
- Heise, Torben
- Langereis, Jeroen D
- Rossing, Emiel
- Zimmermann, Michael
- Rubio-Gozalbo, M Estela
- de Jonge, Marien I
- Adema, Gosse J
- Zamboni, Nicola
- Boltje, Thomas
- Lefeber, Dirk J
2022
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Journal of allergy and clinical immunology, 2018-08, Vol.142 (2), p.517-529
2018
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Glycobiology (Oxford), 2017-01, Vol.27 (1), p.87-98
2017
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