학술논문
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1~10
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
Reinson, Karit; Kovacs-Nagy, Reka; Õiglane-Shlik, Eve; Pajusalu, Sander; Nõukas, Margit; Wintjes, Liesbeth T.; van den Brandt, Frans C.A.; Brink, Maaike; Acker, Till; Ahting, Uwe; Hahn, Andreas; Schänzer, Anne; Haack, Tobias B.; Rodenburg, Richard J.; Õunap, Katrin
In European Journal of Medical Genetics November 2019 62(11)
Academic Journal
van Karnebeek, Clara D.M.; Ramos, Rúben J.; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Gleeson, Joseph G.; Skrypnyk, Cristina; Brand-Arzamendi, Koroboshka; Karbassi, Farhad; Issa, Mahmoud Y.; van der Lee, Robin; Drögemöller, Britt I.; Koster, Janet; Rousseau, Justine; Campeau, Philippe M.; Wang, Youdong; Cao, Feng; Li, Meng; Ruiter, Jos; Ciapaite, Jolita; Kluijtmans, Leo A.J.; Willemsen, Michel A.A.P.; Jans, Judith J.; Ross, Colin J.; Wintjes, Liesbeth T.; Rodenburg, Richard J.; Huigen, Marleen C.D.G.; Jia, Zhengping; Waterham, Hans R.; Wasserman, Wyeth W.; Wanders, Ronald J.A.; Verhoeven-Duif, Nanda M.; Zaki, Maha S.; Wevers, Ron A.
In The American Journal of Human Genetics 5 September 2019 105(3):534-548
Academic Journal
Barbosa-Gouveia, Sofia; Vázquez-Mosquera, Maria E.; Gonzalez-Vioque, Emiliano; Hermida-Ameijeiras, Álvaro; Valverde, Laura L.; Armstrong-Moron, Judith; Fons-Estupiña, Maria del Carmen; Wintjes, Liesbeth T.; Kappen, Antonia; Rodenburg, Richard J.; Couce, Maria L.
Academic Journal
Almomani, Rowida; Herkert, Johanna C.; Posafalvi, Anna; Post, Jan G.; Boven, Ludolf G.; van der Zwaag, Paul A.; Willems, Peter H. G. M.; van Veen-Hof, Ingrid H.; Verhagen, Judith M. A.; Wessels, Marja W.; Nikkels, Peter G. J.; Wintjes, Liesbeth T.; van den Berg, Maarten P.; Sinke, Richard J.; Rodenburg, Richard J.; Niezen-Koning, Klary R.; van Tintelen, J. Peter; Jongbloed, Jan D. H.
Journal of Medical Genetics; Jan2020, Vol. 57 Issue 1, p23-30, 8p
Academic Journal
Wortmann, Saskia B.; Timal, Sharita; Venselaar, Hanka; Wintjes, Liesbeth T.; Kopajtich, Robert; Feichtinger, René G.; Onnekink, Carla; Mühlmeister, Mareike; Brandt, Ulrich; Smeitink, Jan A.; Veltman, Joris A.; Sperl, Wolfgang; Lefeber, Dirk; Pruijn, Ger; Stojanovic, Vesna; Freisinger, Peter; v Spronsen, Francjan; Derks, Terry GJ; Veenstra-Knol, Hermine E.; Mayr, Johannes A
Human Mutation; Dec2017, Vol. 38 Issue 12, p1786-1795, 10p
Academic Journal
Wüst, Rob C.I.; de Vries, Heder J.; Wintjes, Liesbeth T.; Rodenburg, Richard J.; Niessen, Hans W. M.; Stienen, Ger J. M.
Academic Journal
Almomani, Rowida; Herkert, Johanna C.; Posafalvi, Anna; Post, Jan G.; Boven, Ludolf G.; van der Zwaag, Paul A.; Willems, Peter H. G. M.; Van Veen-Hof, Ingrid H.; Verhagen, Judith M. A.; Wessels, Marja W.; Nikkels, Peter G. J.; Wintjes, Liesbeth T.; van den Berg, Maarten P.; Sinke, Richard J.; Rodenburg, Richard J.; Niezen-Koning, Klary E.; van Tintelen, J. Peter; Jongbloed, Jan D. H.
Academic Journal
Friederich, Marisa W.; Timal, Sharita; Powell, Christopher A.; Dallabona, Cristina; Kurolap, Alina; Palacios-Zambrano, Sara; Bratkovic, Drago; Derks, Terry G. J.; Bick, David; Bouman, Katelijne; Chatfield, Kathryn C.; Damouny-Naoum, Nadine; Dishop, Megan K.; Falik-Zaccai, Tzipora C.; Fares, Fuad; Fedida, Ayalla; Ferrero, Ileana; Gallagher, Renata C.; Garesse, Rafael; Gilberti, Micol; Gonzalez, Cristina; Gowan, Katherine; Habib, Clair; Halligan, Rebecca K.; Kalfon, Limor; Knight, Kaz; Lefeber, Dirk; Mamblona, Laura; Mandel, Hanna; Mory, Adi; Ottoson, John; Paperna, Tamar; Pruijn, Ger J. M.; Rebelo-Guiomar, Pedro F.; Saada, Ann; Sainz, Bruno, Jr.; Salvemini, Hayley; Schoots, Mirthe H.; Smeitink, Jan A.; Szukszto, Maciej J.; ter Horst, Hendrik J.; van den Brandt, Frans; van Spronsen, Francjan J.; Veltman, Joris A.; Wartchow, Eric; Wintjes, Liesbeth T.; Zohar, Yaniv; Fernandez-Moreno, Miguel A.; Baris, Hagit N.; Donnini, Claudia; Minczuk, Michal; Rodenburg, Richard J.; Van Hove, Johan L. K.
Academic Journal
Ngu, Lock Hock; Nijtmans, Leo G.; Distelmaier, Felix; Venselaar, Hanka; van Emst-de Vries, Sjenet E.; van den Brand, Mariël A.M.; Stoltenborg, Berendien J.M.; Wintjes, Liesbeth T.; Willems, Peter H.; van den Heuvel, Lambertus P.; Smeitink, Jan A.; Rodenburg, Richard J.T.
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[AR] Wintjes, Liesbeth T.
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