학술논문
'학술논문'
에서 검색결과 15건 | 목록
1~10
Academic Journal
In: Skeletal Muscle . (Skeletal Muscle, December 2024, 14(1))
Academic Journal
van der Wal, E.; den Hamer, B.; de Greef, J.C.; Iuliano, A.; in ’t Groen, S.L.M.; Bholasing, A.P.; Pijnappel, W.W.M.P.; Priesmann, D.; Krüger, M.; Sharma, P.; Saggiomo, V.
In: Stem Cell Reports . (Stem Cell Reports, 10 October 2023, 18(10):1954-1971)
Academic Journal
Gragnaniello, V.; Gueraldi, D.; Cazzorla, C.; Polo, G.; Burlina, A.B.; Pijnappel, P.W.W.M.; In 't Groen, S.L.M.; Burlina, A.P.; Maines, E.; Salviati, L.; Di Salvo, G.
In: Molecular Genetics and Metabolism Reports . (Molecular Genetics and Metabolism Reports, December 2022, 33)
Academic Journal
Lee, N.-C.; Chang, K.-L.; Huang, H.-J.; Hwu, W.-L.; Chien, Y.-H.; in 't Groen, S.L.M.; de Faria, D.O.S.; Pijnappel, W.W.M.P.
In: Journal of Pediatrics . (Journal of Pediatrics, May 2022, 244:139-147.e2)
Academic Journal
Bergsma, A.J.; in ’t Groen, S.L.M.; Catalano, F.; Yamanaka, M.; Pijnappel, W.W.M.P.; van der Ploeg, A.T.; Takahashi, S.; Okumiya, T.
In: European Journal of Human Genetics . (European Journal of Human Genetics, March 2021, 29(3):422-433)
Academic Journal
de Faria, D.O.S.; in ‘t Groen, S.L.M.; Niño, M.Y.; van der Ploeg, A.T.; Bergsma, A.J.; Pijnappel, W.W.M.P.; Hoogeveen-Westerveld, M.
In: Human Mutation . (Human Mutation, February 2021, 42(2):119-134)
Academic Journal
Iuliano, A.; Ruijmbeek, C.W.B.; in ‘t Groen, S.L.M.; Pijnappel, W.W.M.P.; van der Wal, E.; de Greef, J.C.; Saggiomo, V.
In: Advanced Materials Technologies . (Advanced Materials Technologies, 1 September 2020, 5(9))
Academic Journal
in ’t Groen, S.L.M.; de Faria, D.O.S.; Iuliano, A.; van den Hout, J.M.P.; van der Ploeg, A.T.; Bergsma, A.J.; Pijnappel, W.W.M.P.; Douben, H.; de Klein, A.; Somers-Bolman, G.M.; Saris, J.J.; Hoefsloot, L.H.; Dijkhuizen, T.; Cassiman, D.; Witters, P.; Barba Romero, M.-Á.
In: Molecular Therapy Methods and Clinical Development . (Molecular Therapy Methods and Clinical Development, 12 June 2020, 17:337-348)
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity
Academic Journal
Niño, M.Y.; in 't Groen, S.L.M.; Bergsma, A.J.; van der Beek, N.A.M.E.; van der Ploeg, A.T.; Pijnappel, W.W.M.P.; Kroos, M.; Hoogeveen-Westerveld, M.
In: Human Mutation . (Human Mutation, 1 November 2019, 40(11):1954-1967)
Academic Journal
Labrijn-Marks, I.; Somers-Bolman, G.M.; Hoogeveen-Westerveld, M.; Kroos, M.A.; Verheijen, F.W.; Hoefsloot, L.H.; Saris, J.J.; Halley, D.J.; In ’t Groen, S.L.M.; Pijnappel, W.W.M.P.; van den Hout, H.J.M.; van der Ploeg, A.T.; Ala-Mello, S.; Amaral, O.; Miranda, C.; Mavridou, I.; Michelakakis, H.; Naess, K.; Dijkhuizen, T.; Benjamins, M.
In: European Journal of Human Genetics . (European Journal of Human Genetics, 1 June 2019, 27(6):919-927)
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[AR] in ‘t Groen, S.L.M.
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