학술논문
'학술논문'
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1~10
Academic Journal
C. Pascoal; I. Ferreira; C. Teixeira; E. Almeida; A. Slade; S. Brasil; R. Francisco; A. N. Ligezka; E. Morava; H. Plotkin; J. Jaeken; P. A. Videira; L. Barros; V. dos Reis Ferreira
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-22 (2022)
Academic Journal
Pascoal, C.; Ferreira, I.; Teixeira, C.; Almeida, E.; Slade, A.; Brasil, S.; Francisco, R.; Ligezka, A. N.; Morava, E.; Plotkin, H.; Jaeken, J.; Videira, P. A.; Barros, L.; dos Reis Ferreira, V.
Orphanet Journal of Rare Diseases. 17(1)
Academic Journal
Ng, Bobby G; Shiryaev, Sergey A; Rymen, Daisy; Eklund, Erik A; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E; Alehan, Fusun; Midro, Alina T; Bamshad, Michael J; Barone, Rita; Berry, Gerard T; Brumbaugh, Jane E; Buckingham, Kati J; Clarkson, Katie; Cole, F Sessions; O'Connor, Shawn; Cooper, Gregory M; Coster, Rudy; Demmer, Laurie A; Diogo, Luisa; Fay, Alexander J; Ficicioglu, Can; Fiumara, Agata; Gahl, William A; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A; He, Miao; Jaeken, Jaak; James, Philip M; Katz, Daniel; Keldermans, Liesbeth; Kibaek, Maria; Kornberg, Andrew J; Lachlan, Katherine; Lam, Christina; Yaplito‐Lee, Joy; Nickerson, Deborah A; Peters, Heidi L; Race, Valerie; Régal, Luc; Rush, Jeffrey S; Rutledge, S Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E; Trapane, Pamela; Sanchez‐Valle, Amarilis; Vilain, Eric; Vøllo, Arve; Waechter, Charles J; Wang, Raymond Y; Wolfe, Lynne A; Wong, Derek A; Wood, Tim; Yang, Amy C; Genomics, University of Washington Center for Mendelian; Matthijs, Gert; Freeze, Hudson H
Human Mutation. 37(7)
Academic Journal
Peter Witters; Hans Andersson; Jaak Jaeken; Laura Tseng; Clara D. M. van Karnebeek; Dirk J. Lefeber; David Cassiman; Eva Morava
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-5 (2021)
Academic Journal
Quelhas, D.; Kingma, S.D.K.; Rubio-Gozalbo, E.; Jonckheere, A.I.; Smeets-Peels, C.S.; Gomes, D.C.; Duro, J.; Oliveira, A.; Matthijs, G.; Steinbusch, L.K.M.; Jaeken, J.; Rivera, I.
In: Molecular Genetics and Metabolism Reports . (Molecular Genetics and Metabolism Reports, March 2024, 38)
Academic Journal
Van Bostraeten, P.; Aertgeerts, B.; Bekkering, G.; Delvaux, N.; Haers, A.; Vanheeswyck, M.; Vandekendelaere, A.; Van der Auwera, N.; Dijckmans, C.; Ostyn, E.; Soontjens, W.; Matthysen, W.; Schenk, N.; Mertens, L.; Jaeken, J.; Vermandere, M.; Agoritsas, T.
In: BMC Medical Informatics and Decision Making . (BMC Medical Informatics and Decision Making, December 2023, 23(1))
Academic Journal
de la Morena‐Barrio, M.E.; Martínez‐Martínez, I.; de Cos, C.; Wypasek, E.; Roldán, V.; Undas, A.; van Scherpenzeel, M.; Lefeber, D.J.; Toderici, M.; Sevivas, T.; España, F.; Jaeken, J.; Corral, J. ; Vicente, V.
In Journal of Thrombosis and Haemostasis August 2016 14(8):1549-1560
Academic Journal
Francisco, R.; Pascoal, C.; Marques-da-Silva, D.; Morava, E.; Gole, G. A.; Coman, D.; Jaeken, J.; dos Reis Ferreira, Vanessa
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. :1-16
Academic Journal
Marques-da-Silva, D.; Francisco, R.; Webster, D.; dos Reis Ferreira, V.; Jaeken, J.; Pulinilkunnil, T.
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. September 2017 40(5):657-672
Academic Journal
de la Morena-Barrio, M.E.; Di Michele, M.; Lozano, M.L.; Rivera, J.; Pérez-Dueñas, B.; Altisent, C.; Sevivas, T.; Vicente, V.; Jaeken, J.; Freson, K.; Corral, J.
In Thrombosis Research March 2014 133(3):412-417
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