학술논문
'학술논문'
에서 검색결과 172건 | 목록
1~10
Academic Journal
de Muijnck, C.; van Genderen, M.M.; van Schooneveld, M.J.; Boon, C.J.F.; Plomp, A.S.; Rodenburg, R.J.
In: American Journal of Ophthalmology Case Reports . (American Journal of Ophthalmology Case Reports, June 2024, 34)
Academic Journal
de Muijnck, C.; van Genderen, M.M.; Boon, C.J.F.; Brink, J.B.T.; Bergen, A.A.; de Haan, H.G.; Rodenburg, R.J.; Wolf, N.I.
In: Genes . (Genes, May 2024, 15(5))
Academic Journal
Verhoeven, J.I.; Kramer, J.; Seeger, J.; Molenaar, J.P.; Braakman, H.; Kamsteeg, E.-J.; Rodenburg, R.J.; Kusters, B.; Koudijs, S.; Van Engelen, B.G.; Erasmus, C.E.; Voermans, N.C.
In: Neurology . (Neurology, 12 March 2024, 102(5):e209164)
Academic Journal
de Winter, J.M.; Molenaar, J.P.; Yuen, M.; van der Pijl, R.; Shen, S.; Conijn, S.; van de Locht, M.; Willigenburg, M.; Bogaards, S.J.; van Kleef, E.S.; Lassche, S.; Persson, M.; Rassier, D.E.; Sztal, T.E.; Ruparelia, A.A.; Oorschot, V.; Ramm, G.; Hall, T.E.; Xiong, Z.; Johnson, C.N.; Li, F.; Kiss, B.; Lozano-Vidal, N.; Boon, R.A.; Marabita, M.; Nogara, L.; Blaauw, B.; Rodenburg, R.J.; Küsters, B.; Doorduin, J.; Beggs, A.H.; Granzier, H.; Campbell, K.; Ma, W.; Irving, T.; Malfatti, E.; Romero, N.B.; Bryson-Richardson, R.J.; van Engelen, B.G.; Voermans, N.C.; Ottenheijm, C.A.
In: The Journal of clinical investigation . (The Journal of clinical investigation, 1 February 2024, 134(3))
Academic Journal
Galosi, S.; Commone, A.; Nardecchia, F.; Leuzzi, V.; Mancini, C.; Pizzi, S.; Niceta, M.; Tartaglia, M.; Calligari, P.; Caputo, V.; Carducci, C.; van den Heuvel, L.P.; Rodenburg, R.J.; Bruselles, A.; Martinelli, S.
In: Movement Disorders . (Movement Disorders, 2024)
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
Academic Journal
Bulthuis, E.P.; Adjobo-Hermans, M.J.W.; de Potter, B.; Hoogstraten, S.; Wezendonk, L.H.T.; Willems, P.H.G.M.; Koopman, W.J.H.; Tutakhel, O.A.Z.; Wintjes, L.T.; van den Heuvel, B.; Kamsteeg, E.-J.; Gozalbo, M.E.R.; Sallevelt, S.C.E.H.; Koudijs, S.M.; Nicolai, J.; de Bie, C.I.; Hoogendijk, J.E.; Rodenburg, R.J.
In: Biochimica et Biophysica Acta - Molecular Basis of Disease . (Biochimica et Biophysica Acta - Molecular Basis of Disease, December 2023, 1869(8))
Academic Journal
van Strien, J.; Cabrera-Orefice, A.; Huynen, M.A.; Evers, F.; van Gemert, G.-J.; Kooij, T.W.A.; Lutikurti, M.; Berendsen, S.L.; Garanto, A.; Brandt, U.; Rodenburg, R.J.
In: PLoS Computational Biology . (PLoS Computational Biology, August 2023, 19(8 August))
Academic Journal
Allard, N.A.E.; Janssen, L.; Nuijten, M.A.H.; Bongers, C.C.W.G.; Eijsvogels, T.M.H.; Hopman, M.T.E.; Lagerwaard, B.; Timmers, S.; Rodenburg, R.J.; Thompson, P.D.; Assendelft, W.J.J.; Schirris, T.J.J.
In: Journal of the American College of Cardiology . (Journal of the American College of Cardiology, 11 April 2023, 81(14):1353-1364)
Academic Journal
Abu Hanna, F.; Zehavi, Y.; Spiegel, R.; Cohen-Barak, E.; Khayat, M.; Warwar, N.; Shreter, R.; Rodenburg, R.J.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, December 2024, 19(1))
Academic Journal
Webb, B.D.; Ganesh, J.; Leandro, J.; Evans, A.; Gelb, B.D.; Houten, S.M.; Nowinski, S.M.; Solmonson, A.; Vu, H.S.; Deberardinis, R.J.; Rodenburg, R.J.; Naidich, T.P.; Rutter, J.
In: eLife . (eLife, March 2023, 12)
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제한된 항목
[AR] Rodenburg, R.J.
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