학술논문
'학술논문'
에서 검색결과 58건 | 목록
1~10
Academic Journal
Kishnani, P.S.; Kronn, D.; Suwazono, S.; Broomfield, A.; Llerena, J.; Al-Hassnan, Z.N.; Batista, J.L.; Wilson, K.M.; Periquet, M.; Daba, N.; Hahn, A.; Chien, Y.-H.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, December 2023, 18(1))
Academic Journal
Kishnani, P.S.; Kronn, D.; Brassier, A.; Pichard, S.; Broomfield, A.; Davison, J.; Hahn, S.H.; Kumada, S.; Labarthe, F.; Ohki, H.; Prakalapakorn, S.G.; Haack, K.A.; Kittner, B.; Meng, X.; Sparks, S.; Wilson, C.; Zaher, A.; Chien, Y.-H.
In: Genetics in Medicine . (Genetics in Medicine, February 2023, 25(2))
Academic Journal
Byrne, B.J.; Colan, S.D.; Kishnani, P.S.; Peña, L.D.M.; Foster, M.C.; Sparks, S.E.; Johnson, J.; Gibson, J.B.; An Haack, K.; Stockton, D.W.; Leslie, N.D.; Hahn, S.H.; Tanpaiboon, P.X.; Kronn, D.; Hillman, R.E.; Wang, R.Y.
In: Cardiology in the Young . (Cardiology in the Young, 23 March 2022, 32(3):364-373)
Academic Journal
Duong, T.; Day, J.W.; Kishnani, P.S.; Peña, L.D.M.; An Haack, K.; Foster, M.C.; Wilson, C.; Sparks, S.E.; Gibson, J.B.; Hahn, S.H.; Hillman, R.; Kronn, D.; Leslie, N.D.; Stockton, D.W.; Tanpaiboon, P.
In: Journal of Neuromuscular Diseases . (Journal of Neuromuscular Diseases, 2022, 9(6):713-730)
Academic Journal
Voisin, N.; Chatron, N.; Giannuzzi, G.; Guex, N.; Lorrain, S.; Mikhaleva, A.; Pradervand, S.; Yalcin, B.; Reymond, A.; Schnur, R.E.; Douglas, G.; Funari, T.; Juusola, J.; Rhodes, L.; Douzgou, S.; Donnai, D.; Hiatt, S.M.; Cooper, G.M.; Rustad, C.F.; Tønne, E.; Brown, N.J.; Lee, C.; Amor, D.J.; Earl, D.L.; Keren, B.; Courtin, T.; Heron, D.; Nava, C.; Levchenko, O.; Dadali, E.; Lavrov, A.; Geuer, S.; Mundlos, S.; Verheyen, S.; Blatterer, J.; Seebacher, H.A.; Johnson, D.; Zarate, Y.A.; Sellars, E.A.; Hančárová, M.; Prchalová, D.; Sedláček, Z.; Vlčková, M.; Bebin, E.M.; Brusco, A.; Cappuccio, G.; Del Giudice, E.; Vitiello, G.; Brunetti-Pierri, N.; Charrow, J.; Sanders, V.R.; Taska-Tench, H.; Delafontaine, J.; Doco, M.; Eisenkölbl, A.; Gruber-Sedlmayr, U.; Holla, Ø.L.; Tveten, K.; Hurst, A.C.E.; Kronn, D.; Merckoll, E.; Norman, J.; Sirchia, F.; Takenouchi, T.; Uehara, T.; Kosaki, K.; Tanaka, A.J.; Chung, W.K.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 6 May 2021, 108(5):857-873)
Academic Journal
Conte, F.; Bakar, N.A.; Voermans, N.C.; Lefeber, D.J.; van Scherpenzeel, M.; Morava, E.; Wortmann, S.B.; Poerink, A.J.; de Vries, M.C.; Grunewald, S.; Crushell, E.; Al-Gazali, L.; Mørkrid, L.; Hertecant, J.; Brocke Holmefjord, K.S.; Kronn, D.; Feigenbaum, A.; Fingerhut, R.; Wong, S.Y.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, 1 September 2020, 131(1-2):135-146)
Academic Journal
Kishnani, P.S.; Pena, L.D.M.; Goldstein, J.L.; Gibson, J.B.; Gambello, M.J.; Hillman, R.; Stockton, D.W.; Kronn, D.; Leslie, N.D.; Tanpaiboon, P.; Day, J.W.; Wang, R.Y.; An Haack, K.; Sparks, S.E.; Zhao, Y.; Hahn, S.H.
In: Genetics in Medicine . (Genetics in Medicine, 1 November 2019, 21(11):2543-2551)
Academic Journal
Kazi, Z.B.; Desai, A.K.; Kishnani, P.S.; Troxler, R.B.; Kronn, D.; Packman, S.; Sabbadini, M.; Rizzo, W.B.; Scherer, K.; Abdul-Rahman, O.; Tanpaiboon, P.; Nampoothiri, S.; Gupta, N.; Feigenbaum, A.; Niyazov, D.M.; Sherry, L.; Segel, R.; McVie-Wylie, A.; Sung, C.; Joseph, A.M.; Richards, S.
In: Genetics in Medicine . (Genetics in Medicine, 1 April 2019, 21(4):887-895)
Academic Journal
Hahn, S.H.; Kronn, D.; Leslie, N.D.; Pena, L.D.M.; Kishnani, P.S.; Tanpaiboon, P.; Gambello, M.J.; Gibson, J.B.; Hillman, R.; Stockton, D.W.; Day, J.W.; Wang, R.Y.; An Haack, K.; Shafi, R.; Sparks, S.; Zhao, Y.; Wilson, C.
In: Genetics in Medicine . (Genetics in Medicine, 1 October 2018, 20(10):1284-1294)
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[AR] Kronn, D.
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