학술논문
'학술논문'
에서 검색결과 170건 | 목록
1~10
Academic Journal
Pacak, C.A.; Khadir, F.; Daugherty, A.L.; Kang, P.B.; Suzuki-Hatano, S.; Sriramvenugopal, M.; Gosiker, B.J.; Cade, W.T.
In: Journal of Translational Medicine . (Journal of Translational Medicine, December 2023, 21(1))
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Academic Journal
Morales-Rosado, J.A.; Schwab, T.L.; Macklin-Mantia, S.K.; Pinto e Vairo, F.; Klee, E.W.; Boyum, G.E.; Cong, A.T.Q.; Schellenberg, M.J.; Clark, K.J.; Wierenga, K.J.; Foley, A.R.; Donkervoort, S.; Hu, Y.; Saade, D.; Bharucha-Goebel, D.; Grunseich, C.; Bönnemann, C.G.; Pehlivan, D.; Rosenfeld, J.A.; Lupski, J.R.; Lee, B.; Lotze, T.E.; Mohila, C.A.; Chao, K.R.; Pais, L.; Bruels, C.C.; Littel, H.R.; Kang, P.B.; Estrella, E.A.; Zimmermann, M.T.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 1 June 2023, 110(6):989-997)
Academic Journal
Nascimento, A.; Carrera-García, L.; Expósito-Escudero, J.; Ortez, C.; Natera-de Benito, D.; Codina, A.; Jou, C.; Pijuan, J.; Yubero, D.; Martorell, L.; Grau-Junyent, J.M.; Palau, F.; Hoenicka, J.; Bruels, C.C.; Stafki, S.A.; Kang, P.B.; Donkervoort, S.; Foley, A.R.; Hu, Y.; Syeda, S.B.; Bönnemann, C.G.; Milisenda, J.C.; Estrella, E.A.; Pais, L.S.; Ganesh, V.S.; O’Donnell-Luria, A.; Kunkel, L.M.; Ghosh, P.S.; Darras, B.T.; Li, C.; Draper, I.; Pinal-Fernandez, I.; Mammen, A.L.; Lidov, H.G.W.
In: Acta Neuropathologica . (Acta Neuropathologica, April 2023, 145(4):479-496)
Academic Journal
Stafki, S.A.; Turner, J.; Littel, H.R.; Bruels, C.C.; Truong, D.; Pacak, C.A.; Kang, P.B.; Knirsch, U.; Stettner, G.M.; Graf, U.; Berger, W.; Kinali, M.; Jungbluth, H.; Hughes, J.; Mirchi, A.; Derksen, A.; Bernard, G.; Vincent-Delorme, C.; Theil, A.F.; Ellis, D.; Fassihi, H.; Lehmann, A.R.; Laugel, V.; Mohammed, S.
In: Pediatric Neurology . (Pediatric Neurology, April 2023, 141:79-86)
Academic Journal
In: Developmental Medicine and Child Neurology . (Developmental Medicine and Child Neurology, October 2022, 64(10):1254-1261)
Academic Journal
Bruels, C.C.; Littel, H.R.; Daugherty, A.L.; Stafki, S.; Truong, D.; Pacak, C.A.; Kang, P.B.; Estrella, E.A.; Laine, R.; Ghosh, P.S.; Darras, B.T.; Pais, L.; Ganesh, V.S.; O'Donnell-Luria, A.; Kunkel, L.M.; McGaughy, E.S.; Zingariello, C.D.; Badalamenti, J.P.; Stalker, H.J.; Wang, Y.; Collins, C.; Behlmann, A.; Lemmers, R.J.L.F.; van der Maarel, S.M.
In: Annals of Clinical and Translational Neurology . (Annals of Clinical and Translational Neurology, August 2022, 9(8):1302-1309)
Academic Journal
Guglieri, M.; Bushby, K.; Eagle, M.; Straub, V.; Van Ruiten, H.; McDermott, M.P.; Hart, K.A.; Tawil, R.; Martens, W.B.; Herr, B.E.; Brown, M.W.; Griggs, R.C.; Ciafaloni, E.; McColl, E.; Speed, C.; Wilkinson, J.; Kirschner, J.; King, W.M.; Willis, T.; Childs, A.-M.; Shieh, P.B.; Spinty, S.; Maggi, L.; Baranello, G.; Butterfield, R.J.; Horrocks, I.A.; Roper, H.; Alhaswani, Z.; Flanigan, K.M.; Kuntz, N.L.; Manzur, A.; Darras, B.T.; Kang, P.B.; Morrison, L.; Krzesniak-Swinarska, M.; Mah, J.K.; Mongini, T.E.; Ricci, F.; Von Der Hagen, M.; Finkel, R.S.; O'Reardon, K.; Wicklund, M.; Kumar, A.; McDonald, C.M.; Han, J.J.; Joyce, N.; Henricson, E.K.; Schara-Schmidt, U.; Gangfuss, A.; Wilichowski, E.; Barohn, R.J.; Statland, J.M.; Campbell, C.; Vita, G.; Vita, G.L.; Howard, J.F.; Hughes, I.; McMillan, H.J.; Pegoraro, E.; Bello, L.; Burnette, W.B.; Thangarajh, M.; Chang, T.
In: JAMA . (JAMA, 19 April 2022, 327(15):1456-1468)
Academic Journal
Holling, T.; Schneeberger, P.E.; Kutsche, K.; Nampoothiri, S.; Yesodharan, D.; Tarhan, B.; Kang, P.B.; Vinayan, K.P.; Roy, A.G.; Radhakrishnan, P.; Alawi, M.; Rhodes, L.; Girisha, K.M.
In: European Journal of Human Genetics . (European Journal of Human Genetics, April 2022, 30(4):439-449)
Academic Journal
In: Pediatric Neurology . (Pediatric Neurology, December 2023, 149:1-14)
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[AR] Kang, P.B.
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