학술논문
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SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
Academic Journal
Bulthuis, Elianne P.; Adjobo-Hermans, Merel J.W.; de Potter, Bastiaan; Hoogstraten, Saskia; Wezendonk, Lisanne H.T.; Tutakhel, Omar A.Z.; Wintjes, Liesbeth T.; van den Heuvel, Bert; Willems, Peter H.G.M.; Kamsteeg, Erik-Jan; Gozalbo, M. Estela Rubio; Sallevelt, Suzanne C.E.H.; Koudijs, Suzanne M.; Nicolai, Joost; de Bie, Charlotte I.; Hoogendijk, Jessica E.; Koopman, Werner J.H.; Rodenburg, Richard J.
In BBA - Molecular Basis of Disease December 2023 1869(8)
Academic Journal
de Boer, Eva M. J.; Demaegd, Koen C.; de Bie, Charlotte I.; Veldink, Jan H.; van den Berg, Leonard H.; van Es, Michael A.
Academic Journal
Groen, Karlijn; van der Vis, Joanne J.; van Batenburg, Aernoud A.; Kazemier, Karin M.; de Bruijn, Marjolein J. W.; Stadhouders, Ralph; Arp, Pascal; Verkerk, Annemieke J. M. H.; Schoemaker, Angela E.; de Bie, Charlotte I.; Massink, Maarten P. G.; van Beek, Frouke T.; Grutters, Jan C.; Vergouw, Leonie J. M.; van Moorsel, Coline H. M.
ERJ Open Research; Jan2024, Vol. 10 Issue 1, p1-12, 12p
Demaegd, Koen; Brilstra, Eva H.; Hoogendijk, Jessica E.; de Bie, Charlotte I.; de Pagter, Mirjam S.; van Hecke, Wim; Mühlebner, Angelika; van Es, Michael A.; Milone, Margherita; van Rheenen, Wouter
In Neuromuscular Disorders June 2022 32(6):527-532
Academic Journal
De Boer, Eva M. J.; Demaegd, Koen C.; De Bie, Charlotte I.; Veldink, Jan H.; Van Den Berg, Leonard H.; Van Es, Michael A.
Academic Journal
van Lierop, Pieter P. E.; Swagemakers, Sigrid M.; de Bie, Charlotte I.; Middendorp, Sabine; van Baarlen, Peter; Samsom, Janneke N.; van IJcken, Wilfred F. J.; Escher, Johanna C.; van der Spek, Peter J.; Nieuwenhuis, Edward E. S.
Academic Journal
Houge, Gunnar; Haesen, Dorien; Vissers, Lisenka E.L.M.; Mehta, Sarju; Parker, Michael J.; Wright, Michael; Vogt, Julie; McKee, Shane; Tolmie, John L.; Cordeiro, Nuno; Kleefstra, Tjitske; Willemsen, Marjolein H.; Reijnders, Margot R.F.; Berland, Siren; Hayman, Eli; Lahat, Eli; Brilstra, Eva H.; van Gassen, Koen L.I.; Zonneveld-Huijssoon, Evelien; de Bie, Charlotte I.; Hoischen, Alexander; Eichler, Evan E.; Holdhus, Rita; Steen, Vidar M.; Døskeland, Stein Ove; Hurles, Matthew E.; FitzPatrick, David R.; Janssens, Veerle
Journal of Clinical Investigation. Aug 03, 2015 125(8):3051-3062
Academic Journal
Campagna, Dean R.; de Bie, Charlotte I.; Schmitz-Abe, Klaus; Sweeney, Marion; Sendamarai, Anoop K.; Schmidt, Paul J.; Heeney, Matthew M.; Yntema, Helger G.; Kannengiesser, Caroline; Grandchamp, Bernard; Niemeyer, Charlotte M.; Knoers, Nine V.A.M.; Swart, Sonia; Marron, Gordon; van Wijk, Richard; Raymakers, Reinier A.; May, Alison; Markianos, Kyriacos; Bottomley, Sylvia S.; Swinkels, Dorine W.; Fleming, Mark D.
American Journal Of Hematology. Mar 01, 2014 89(3):315-319
Academic Journal
Inflammatory Bowel Diseases; May2012, Vol. 18 Issue 5, p985-1002, 18p
Periodical
Meuwissen, Marije; Verstraeten, Aline; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Bastiaansen, Maaike; Mateiu, Ligia; Nemegeer, Merlijn; Meester, Josephina A.N.; Afenjar, Alexandra; Amaral, Michelle; Ballhausen, Diana; Barnett, Sarah; Barth, Magalie; Asselbergh, Bob; Spaas, Katrien; Heeman, Bavo; Bassetti, Jennifer; Blackburn, Patrick; Schaer, Marie; Blanc, Xavier; Zoete, Vincent; Casas, Kari; Courtin, Thomas; Doummar, Diane; Guerry, Frédéric; Keren, Boris; Pappas, John; Rabin, Rachel; Begtrup, Amber; Shinawi, Marwan; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Wagner, Matias; Ziegler, Alban; Schaefer, Elise; Gerard, Benedicte; De Bie, Charlotte I.; Holwerda, Sjoerd J.B.; Abbot, Mary Alice; Antonarakis, Stylianos E.; Loeys, Bart
Genetics in Medicine; 20220101, Issue: Preprints
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[AR] de Bie, Charlotte I.
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