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
Smeets, Hubert J.M.; Sallevelt, Suzanne C.E.H.; Dreesen, Jos C.F.M.; Die‐Smulders, Christine E.M.; Coo, Irenaeus F.M.
Periodical
Sallevelt, Suzanne C.E.H.; Stegmann, Alexander P.A.; de Koning, Bart; Velter, Crool; Steyls, Anja; van Esch, Melanie; Lakeman, Phillis; Yntema, Helger; Esteki, Masoud Zamani; de Die-Smulders, Christine E.M.; Gilissen, Christian; van den Wijngaard, Arthur; Brunner, Han G.; Paulussen, Aimée D.C.
Genetics in Medicine; June 2021, Vol. 23 Issue: 6 p1125-1136, 12p
Theunissen, Tom E.J. ; Sallevelt, Suzanne C.E.H. ; Hellebrekers, Debby M.E.I.; de Koning, Bart; Hendrickx, Alexandra T.M.; van den Bosch, Bianca J.C.; Kamps, Rick; Schoonderwoerd, Kees; Szklarczyk, Radek; Mulder-Den Hartog, Elvira N.M.; de Coo, Irenaeus F.M.; Smeets, Hubert J.M.
In The Journal of Pediatrics March 2017 182:371-374
Periodical
Westra, Dineke; Schouten, Meyke I.; Stunnenberg, Bas C.; Kusters, Benno; Saris, Christiaan G.J.; Erasmus, Corrie E.; van Engelen, Baziel G.; Bulk, Saskia; Verschuuren-Bemelmans, Corien C.; Gerkes, E.H.; de Geus, Christa; van der Zwaag, P.A.; Chan, Sophelia; Chung, Brian; Barge-Schaapveld, Daniela Q.C.M.; Kriek, Marjolein; Sznajer, Yves; van Spaendonck-Zwarts, Karin; van der Kooi, Anneke J.; Krause, Amanda; Schönewolf-Greulich, Bitten; de Die-Smulders, Christine; Sallevelt, Suzanne C.E.H.; Krapels, Ingrid P.C.; Rasmussen, Magnhild; Maystadt, Isabelle; Kievit, Anneke J.A.; Witting, Nanna; Pennings, Maartje; Meijer, Rowdy; Gillissen, Christian; Kamsteeg, Erik-Jan; Voermans, Nicol C.
Journal of Neuromuscular Diseases; November 2019, Vol. 6 Issue: 2 p241-258, 18p
Academic Journal
Sallevelt, Suzanne C.E.H.; Dreesen, Joseph C.F.M.; Drüsedau, Marion; Hellebrekers, Debby M.E.I.; Paulussen, Aimee D.C.; Coonen, Edith; van Golde, Ronald J.T.; Geraedts, Joep P.M.; Gianaroli, Luca; Magli, Maria C.; Zeviani, Massimo; Smeets, Hubert J.M.; de Die-Smulders, Christine E.M.
Human Reproduction. Mar 01, 2017 32(3):698-703
Academic Journal
Periodical
Sallevelt, Suzanne C.E.H.; de Koning, Bart; Szklarczyk, Radek; Paulussen, Aimee D.C.; de Die-Smulders, Christine E.M.; Smeets, Hubert J.M.
Genetics in Medicine; May 2017, Vol. 19 Issue: 5 p583-592, 10p
Periodical
van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Wödl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F.J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W.Y.; Chung, Brain H.Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hülya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; López-González, Vanesa; Maas, Saskia; Mancini, Grazia M.S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N.M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A.L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C.E.H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P.A.; Stumpel, Constance T.R.M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B.A.; Clayton-Smith, Jill; Santen, Gijs W.E.
Genetics in Medicine; September 2019, Vol. 21 Issue: 9 p2160-2161, 2p
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[AR] Sallevelt, Suzanne C.E.H.
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