학술논문
'학술논문'
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Academic Journal
Tumienė B; del Toro Riera M; Grikiniene J; Samaitiene-Aleknienė R; Praninskienė R; Monavari AA; Sykut-Cegielska J
Journal of Multidisciplinary Healthcare, Vol Volume 15, Pp 553-566 (2022)
Academic Journal
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
In Molecular Genetics and Metabolism July 2024 142(3)
Academic Journal
Posset, R.; Garbade, S.F.; Gleich, F.; Scharre, S.; Okun, J.G.; Druck, A.-C.; Epp, F.; Hoffmann, G.F.; Kölker, S.; Zielonka, M.; Gropman, A.L.; Nagamani, S.C.S.; Mew, N.A.; Seminara, J.; Burrage, L.C.; Berry, G.T.; Breilyn, M.; Schulze, A.; Harding, C.O.; Berry, S.A.; Wong, D.; McCandless, S.E.; Baumgartner, M.R.; Stricker, T.; Konczal, L.; Ficicioglu, C.; Diaz, G.A.; Coughlin, C.R.; Enns, G.M.; Gallagher, R.C.; Lam, C.; Wilkening, G.; Dionisi-Vici, C.; Dobbelaere, D.; Blasco-Alonso, J.; Burlina, A.B.; Freisinger, P.; van Hasselt, P.M.; Skouma, A.; Lund, A.M.; Vara, R.; Sarajlija, A.; Morris, A.A.; Chakrapani, A.; Barić, I.; Augoustides-Savvopoulou, P.; Chien, Y.-H.; Cortès-Saladelafont, E.; Eyskens, F.; Gramer, G.; Zeman, J.; Karall, D.; Couce, M.L.; Mühlhausen, C.; Pedrón-Giner, C.; Spiekerkoetter, U.; Sykut-Cegielska, J.; Wagenmakers, M.; Wijburg, F.A.
In: Genetics in Medicine . (Genetics in Medicine, April 2024, 26(4))
Academic Journal
Abu Bakar, Nurulamin; Voermans, Nicol C.; Marquardt, Thorsten; Thiel, Christian; Janssen, Mirian C.H.; Hansikova, Hana; Crushell, Ellen; Sykut-Cegielska, Jolanta; Bowling, Francis; MØrkrid, Lars; Vissing, John; Morava, Eva; van Scherpenzeel, Monique; Lefeber, Dirk J.
In Translational Research September 2018 199:62-76
Academic Journal
Wong, Sunnie Yan-Wai; Beamer, Lesa J.; Gadomski, Therese; Honzik, Tomas; Mohamed, Miski; Wortmann, Saskia B.; Brocke Holmefjord, Katja S.; Mork, Marit; Bowling, Francis; Sykut-Cegielska, Jolanta; Koch, Dieter; Ackermann, Amanda; Stanley, Charles A.; Rymen, Daisy; Zeharia, Avraham; Al-Sayed, Moeen; Marquardt, Thomas; Jaeken, Jaak; Lefeber, Dirk; Conrad, Donald F.; Kozicz, Tamas; Morava, Eva
In The Journal of Pediatrics August 2016 175:130-136
Academic Journal
Eric J. R. Jansen; Sharita Timal; Margret Ryan; Angel Ashikov; Monique van Scherpenzeel; Laurie A. Graham; Hanna Mandel; Alexander Hoischen; Theodore C. Iancu; Kimiyo Raymond; Gerry Steenbergen; Christian Gilissen; Karin Huijben; Nick H. M. van Bakel; Yusuke Maeda; Richard J. Rodenburg; Maciej Adamowicz; Ellen Crushell; Hans Koenen; Darius Adams; Julia Vodopiutz; Susanne Greber-Platzer; Thomas Müller; Gregor Dueckers; Eva Morava; Jolanta Sykut-Cegielska; Gerard J. M. Martens; Ron A. Wevers; Tim Niehues; Martijn A. Huynen; Joris A. Veltman; Tom H. Stevens; Dirk J. Lefeber
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Academic Journal
Himmelreich, N.; Bertoldi, M.; Bisello, G.; Alfadhel, M.; Alghamdi, M.A.; Wen, Y.; Anikster, Y.; Bao, X.; Bashiri, F.A.; Zeev, B.B.; Ceylan, A.C.; Chien, Y.-H.; Hwu, W.-L.; Choy, Y.S.; Elsea, S.H.; Gijavanekar, C.; Liu, N.; Odom, J.D.; Flint, L.; García-Cazorla, À.; Juliá-Palacios, N.; Gümüş, E.Y.; Hişmi, B.; Hamad, M.H.; Honzik, T.; Zeman, J.; Hübschmann, O.K.; Jeltsch, K.; Opladen, T.; Ibáñez-Micó, S.; Kasapkara, Ç.S.; Kurian, M.A.; Spaull, R.; Kusmierska, K.; Ngu, L.H.; Ong, W.P.; Oppeboen, M.; Pearl, P.L.; Pérez, B.; Pons, R.; Rygiel, A.M.; Shien, T.E.; Yin, J.G.C.; Sykut-Cegielska, J.; Tabarki, B.; Thöny, B.; Blau, N.; Wassenberg, T.; Yakob, Y.; Tangeraas, T.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, July 2023, 139(3))
Academic Journal
Kusmierska, K.; Jansen, E. E. W.; Jakobs, C.; Szymanska, K.; Malunowicz, E.; Meilei, D.; Thony, B.; Blau, N.; Tryfon, J.; Rokicki, D.; Pronicka, E.; Sykut-Cegielska, J.
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. December 2009 32(1):5-10
Academic Journal
Tegtmeyer, L. C.; Rust, S.; van Scherpenzeel, M.; Ng, B. G.; Losfeld, M.-E.; Timal, S.; Raymond, K.; He, P.; Ichikawa, M.; Veltman, J.; Huijben, K.; Shin, Y. S.; Sharma, V.; Adamowicz, M.; Lammens, M.; Reunert, J.; Witten, A.; Schrapers, E.; Matthijs, G.; Jaeken, J.; Rymen, D.; Stojkovic, T.; Laforêt, P.; Petit, F.; Aumaître, O.; Czarnowska, E.; Piraud, M.; Podskarbi, T.; Stanley, C. A.; Matalon, R.; Burda, P.; Seyyedi, S.; Debus, V.; Socha, P.; Sykut-Cegielska, J.; van Spronsen, F.; de Meirleir, L.; Vajro, P.; DeClue, T.; Ficicioglu, C.; Wada, Y.; Wevers, R. A.; Vanderschaeghe, D.; Callewaert, N.; Fingerhut, R.; van Schaftingen, E.; Freeze, H. H.; Morava, E.; Lefeber, D. J.; Marquardt, T.
The New England Journal of Medicine. Feb 06, 2014 370(6):533-542
Academic Journal
Jurecka, A.; Popowska, E.; Tylki-Szymanska, A.; Kubalska, J.; Ciara, E.; Krumina, Z.; Sykut-Cegielska, J.; Pronicka, E.
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. December 2008 31(2):447-451
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