학술논문
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'학술논문'
에서 검색결과 194건 | 목록
1~20
Academic Journal
Clinical Genetics. 108:612-614
Academic Journal
Cécile Brachet; Alexander Laemmle; Martine Cools; Kay-Sara Sauter; Elfride De Baere; Arnaud Vanlander; Amit V Pandey; Therina du Toit; Clarissa D Voegel; Claudine Heinrichs; Hannah Verdin; Christa E Flück
Brachet, Cécile; Laemmle, Alexander; Cools, Martine; Sauter, Kay-Sara; De Baere, Elfride; Vanlander , Arnaud ; Pandey, Amit V; Du Toit, Therina; Voegel, Clarissa D; Heinrichs, Claudine; Verdin, Hannah; Flück, Christa E (2024). Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant. European journal of endocrinology, 191(2), pp. 144-155. Oxford Academic 10.1093/ejendo/lvae090
EUROPEAN JOURNAL OF ENDOCRINOLOGY
EUROPEAN JOURNAL OF ENDOCRINOLOGY
Academic Journal
Heldens, Anneleen; Antwi, Milton; Onghena, Louis; Meese, Tim; Gansemans, Yannick; Smet, Joél; Dupont, Ellen; Verhelst, Xavier; Raevens, Sarah; Van Vlierberghe, Hans; Vanlander, Arnaud; Van Nieuwerburgh, Filip; Devisscher, Lindsey; De Bruyne, Ruth; Geerts, Anja; Lefere, Sander
JHEP Reports. 7(6)
Academic Journal
Katrien Vanderwee; Ann Van Hecke; Caroline Verdonck; Kristof Eeckloo; Sara Dequeker; Sabine Van daele; Veerle Duprez; Annemie Charles; Freya Couvin; John Crombez; Lieven De Geyter; Ann De Guchtenaere; Delphine De Smedt; Caroline Dolieslager; Patricia Fruyt; Lien Goossens; Ester Steffens; Els Vandecruys; Arnaud Vanlander
BMJ Open, Vol 15, Iss 6 (2025)
Academic Journal
Smeets, Nathalie, MD; Gheldof, Alexander, PhD; Dequeker, Bart, MSc; Poleur, Margaux, MD; Maldonado Slootjes, Sofia, MD; Van Parijs, Vinciane, MD; Deconinck, Nicolas, MD, PhD; Dontaine, Pauline, MD; Alonso-Jimenez, Alicia, MD, PhD; De Bleecker, Jan, MD, PhD; De Ridder, Willem, MD, PhD; Herdewyn, Sarah, MD, PhD; Paquay, Stéphanie, MD; Vanlander, Arnaud, MD, PhD; De Waele, Liesbeth, MD, PhD; Peirens, Geertrui, MD; Beysen, Diane, MD, PhD; Claeys, Kristl G., MD, PhD; Dubuisson, Nicolas, MD; Hansen, Isabelle, MD; Remiche, Gauthier, MD, PhD; Seneca, Sara, PhD; Bissay, Véronique, MD, PhD; Régal, Luc, MD
Pediatric Neurology. 158:57-65
Academic Journal
Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M.
Molecular Psychiatry. 28(2):668-697
Academic Journal
Deconinck, Nicolas ; Van Coster, Rudy ; Vanlander, Arnaud ; Seferian, Andreea ; De Lucia, Silvana ; Gidaro, Teresa ; Brande, Laura Vanden ; Servais, Laurent ; Kirschner, Janbernd ; Borell, Sabine ; Mercuri, Eugenio ; Brogna, Claudia ; Pane, Marika ; Fanelli, Lavinia ; Norcia, Giulia ; Muntoni, Francesco ; Brusa, Chiara ; Chesshyre, Mary ; Maresh, Kate ; Pitchforth, Jaqueline ; Schottlaender, Lucia ; Scoto, Mariacristina ; Silwal, Arpana ; Trucco, Fedrica ; Mercuri, E. ; Seferian, A.M. ; Servais, L. ; Deconinck, N. ; Stevenson, H. ; Ni, X. ; Zhang, W. ; East, L. ; Yonren, S. ; Muntoni, F.
In Neuromuscular Disorders June 2023 33(6):476-483
Academic Journal
Pediatr. Res., DOI: 10.1038/s41390-022-02169-7 (2022)
PEDIATRIC RESEARCH
PEDIATRIC RESEARCH
Academic Journal
Rosier, Karen ; McDevitt, Molly T. ; Smet, Joél ; Floyd, Brendan J. ; Verschoore, Maxime ; Marcaida, Maria J. ; Bingman, Craig A. ; Lemmens, Irma ; Dal Peraro, Matteo ; Tavernier, Jan ; Cravatt, Benjamin F. ; Gounko, Natalia V. ; Vints, Katlijn ; Monnens, Yenthe ; Bhalla, Kritika ; Aerts, Laetitia ; Rashan, Edrees H. ; Vanlander, Arnaud V. ; Van Coster, Rudy ; Régal, Luc ; Pagliarini, David J. ; Creemers, John W.M.
In iScience 17 December 2021 24(12)
Academic Journal
Vicente A. Yépez; Mirjana Gusic; Robert Kopajtich; Christian Mertes; Nicholas H. Smith; Charlotte L. Alston; Rui Ban; Skadi Beblo; Riccardo Berutti; Holger Blessing; Elżbieta Ciara; Felix Distelmaier; Peter Freisinger; Johannes Häberle; Susan J. Hayflick; Maja Hempel; Yulia S. Itkis; Yoshihito Kishita; Thomas Klopstock; Tatiana D. Krylova; Costanza Lamperti; Dominic Lenz; Christine Makowski; Signe Mosegaard; Michaela F. Müller; Gerard Muñoz-Pujol; Agnieszka Nadel; Akira Ohtake; Yasushi Okazaki; Elena Procopio; Thomas Schwarzmayr; Joél Smet; Christian Staufner; Sarah L. Stenton; Tim M. Strom; Caterina Terrile; Frederic Tort; Rudy Van Coster; Arnaud Vanlander; Matias Wagner; Manting Xu; Fang Fang; Daniele Ghezzi; Johannes A. Mayr; Dorota Piekutowska-Abramczuk; Antonia Ribes; Agnès Rötig; Robert W. Taylor; Saskia B. Wortmann; Kei Murayama; Thomas Meitinger; Julien Gagneur; Holger Prokisch
Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)
Academic Journal
Levi Hoste; Agnieszka Prytula; Jo Dehoorne; Ruth De Bruyne; Stephanie Van Biervliet; Kathleen De Waele; Evelyn Maes; Victoria Bordon; Arnaud Vanlander; Karlien Claes; Johan Vande Walle; Petra Schelstraete; Sabine Van daele; Filomeen Haerynck
Front Pediatr
Frontiers in Pediatrics, Vol 11 (2023)
FRONTIERS IN PEDIATRICS
Frontiers in Pediatrics, Vol 11 (2023)
FRONTIERS IN PEDIATRICS
Academic Journal
Eva Z. Jacobs; Kathleen Brown; Melissa C. Byler; Erika D'haenens; Annelies Dheedene; Lindsay B. Henderson; Jennifer B. Humberson; Richard H. van Jaarsveld; Farah Kanani; Robert Roger Lebel; Francisca Millan; Renske Oegema; Ann Oostra; Michael J. Parker; Lindsay Rhodes; Margarita Saenz; Laurie H. Seaver; Yue Si; Arnaud Vanlander; Sarah Vergult; Bert Callewaert
Clinical Genetics. 99:259-268
Academic Journal
Tang, Maoxing; Boel, Annekatrien; Castelluccio, Noemi; Cardona Barberán, Arantxa; Christodoulaki, Antonia; Bekaert, Bieke; Popovic, Mina; Vanden Meerschaut, Frauke; De Sutter, Petra; Menten, Björn; Symoens, Sofie; Vanlander, Arnaud V.; Stoop, Dominic; Coucke, Paul J.; Heindryckx, Björn
Journal of Assisted Reproduction and Genetics: An Official Journal of the American Society for Reproductive Medicine. 39(3):609-618
Academic Journal
Schuermans, Nika; Hemelsoet, Dimitri; Terryn, Wim; Steyaert, Sanne; Van Coster, Rudy; Coucke, Paul J.; Steyaert, Wouter; Callewaert, Bert; Bogaert, Elke; Verloo, Patrick; Vanlander, Arnaud V.; Debackere, Elke; Ghijsels, Jody; LeBlanc, Pontus; Verdin, Hannah; Naesens, Leslie; Haerynck, Filomeen; Callens, Steven; Dermaut, Bart; Poppe, Bruce
Orphanet Journal of Rare Diseases. 17(1)
Academic Journal
Jennions, Elizabeth; Oldfors Hedberg, Carola, 1969; Berglund, Anna-Karin, 1979; Kollberg, Gittan, 1963; Törnhage, Carl-Johan; Eklund, Erik A; Oldfors, Anders, 1951; Verloo, Patrick; Vanlander, Arnaud V; De Meirleir, Linda; Seneca, Sara; Sterky, Fredrik H; Darin, Niklas, 1964
Journal of inherited metabolic disease. 42(5):898-908
Academic Journal
Vantroys, Elise ; Larson, Austin ; Friederich, Marisa ; Knight, Kaz ; Swanson, Michael A. ; Powell, Christopher A. ; Smet, Joél ; Vergult, Sarah ; De Paepe, Boel ; Seneca, Sara ; Roeyers, Herbert ; Menten, Björn ; Minczuk, Michal ; Vanlander, Arnaud ; Van Hove, Johan ; Van Coster, Rudy
In Molecular Genetics and Metabolism December 2017 122(4):172-181
Academic Journal
Costain, Gregory; Callewaert, Bert; Gabriel, Heinz; Tan, Tiong Y.; Walker, Susan; Christodoulou, John; Lazar, Tamas; Menten, Björn; Orkin, Julia; Sadedin, Simon; Snell, Meaghan; Vanlander, Arnaud; Vergult, Sarah; White, Susan M.; Scherer, Stephen W.; Hayeems, Robin Z.; Blaser, Susan; Wodak, Shoshana J.; Chitayat, David; Marshall, Christian R.; Meyn, M. Stephen
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):1021-1026
Academic Journal
Bogaert, Delfien J., MD, PhD; Kuehn, Hye Sun, PhD; Bonroy, Carolien, MPharm, PhD; Calvo, Katherine R., MD, PhD; Dehoorne, Joke, MD, PhD; Vanlander, Arnaud V., MD, PhD; De Bruyne, Marieke, MSc; Cytlak, Urszula, PhD; Bigley, Venetia, MD, PhD; De Baets, Frans, MD, PhD; De Baere, Elfride, MD, PhD; Rosenzweig, Sergio D., MD, PhD; Haerynck, Filomeen, MD, PhD; Dullaers, Melissa, PhD
The Journal of Allergy and Clinical Immunology. 141(1):432-435
Academic Journal
Vanlander, Arnaud V. ; Muiño Mosquera, Laura ; Panzer, Joseph ; Deconinck, Tine ; Smet, Joél ; Seneca, Sara ; Van Dorpe, Jo ; Ferdinande, Liesbeth ; Ceuterick-de Groote, Chantal ; De Jonghe, Peter ; Van Coster, Rudy ; Baets, Jonathan
In Mitochondrion March 2016 27:32-38
Academic Journal
Stolwijk, Nina N.; Häberle, Johannes; Huidekoper, Hidde H.; Wagenmakers, Margreet A. E. M.; Hollak, Carla E. M.; Bosch, Annet M.; Möslinger, Dorothea; Nassogne, Marie‐Cecile; Vanlander, Arnaud; Witters, Peter; Jesina, Pavel; Zeman, Jiri; Lund, Allan M.; Feillet, François; Gramer, Gwendolyn; Grünert, Sarah C.; Kölker, Stefan; Opladen, Thomas; Thimm, Eva; Ziagaki, Athanasia
Journal of Inherited Metabolic Disease; Jan2025, Vol. 48 Issue 1, p1-12, 12p
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