학술논문
'학술논문'
에서 검색결과 14건 | 목록
1~10
Academic Journal
Rajamani, G.; Stafki, S.A.; Daugherty, A.L.; Littel, H.R.; Bruels, C.C.; Pacak, C.A.; Kang, P.B.; Mantyh, W.G.; Robbins, P.D.; Niedernhofer, L.J.; Abiona, A.; Giunti, P.; Mohammed, S.; Laugel, V.
In: Neurology: Clinical Practice . (Neurology: Clinical Practice, 16 May 2024, 14(4))
Academic Journal
Turner, J.; Bruels, C.C.; Daugherty, A.L.; Stafki, S.; Littel, H.R.; Pacak, C.A.; Kang, P.B.; Estrella, E.A.; Ganesh, V.S.; Ghosh, P.S.; Pais, L.; Kunkel, L.M.; Syeda, S.B.; Lidov, H.G.W.; Paine, S.M.L.; Maddison, P.; Harrison, R.E.; Straub, V.; Topf, A.; Draper, I.
In: Muscle and Nerve . (Muscle and Nerve, 2024)
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
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
Oláhová, M.; Sommerville, E.W.; Blakely, E.L.; Collier, J.J.; Gorman, G.S.; Taylor, R.W.; Peter, B.; Szilagyi, Z.; Diaz-Maldonado, H.; Singh, M.; Hoberg, E.; Falkenberg, M.; Gustafsson, C.M.; Stránecký, V.; Hartmannová, H.; Bleyer, A.J.; Korandová, Z.; Kmoch, S.; McBride, K.L.; Bowden, S.A.; Pecinová, A.; Mráček, T.; Ropers, H.-H.; Kahrizi, K.; Najmabadi, H.; Tarnopolsky, M.A.; Brady, L.I.; Weaver, K.N.; Prada, C.E.; Õunap, K.; Pajusalu, S.; Wojcik, M.H.; Syeda, S.B.; Bruels, C.C.; Kang, P.B.; Pais, L.; Estrella, E.A.; Kunkel, L.M.; Bonnen, P.E.
In: Nature Communications . (Nature Communications, 1 December 2021, 12(1))
Academic Journal
Schmidt-Roach, A.C.J.; Schmidt-Roach, S.; Bruels, C.C.; Shivji, M.S.; Barnett, A.; Miller, A.D.; Sherman, C.D.H.; Ebert, D.A.; da Silva, C.; Wilke, C.G.; Thorburn, C.; Mangel, J.C.; Alfaro-Shigueto, J.; Ezcurra, J.M.; Irigoyen, A.; Jaureguizar, A.J.; Braccini, M.; Duffy, C.
In: Reviews in Fish Biology and Fisheries . (Reviews in Fish Biology and Fisheries, June 2021, 31(2):433-447)
Academic Journal
Coppens, S.; Vilain, C.; Barnard, A.M.; Puusepp, S.; Pajusalu, S.; Õunap, K.; Ilves, P.; Vargas-Franco, D.; Bruels, C.C.; Kang, P.B.; Donkervoort, S.; Mohassel, P.; Bönnemann, C.G.; Pais, L.; Chao, K.R.; Goodrich, J.K.; England, E.M.; Weisburd, B.; Ganesh, V.S.; Gudmundsson, S.; O'Donnell-Luria, A.; Nigul, M.; Siddique, T.; Milone, M.; Nicolau, S.; Maroofian, R.; Houlden, H.; Hanna, M.G.; Quinlivan, R.; Beiraghi Toosi, M.; Ghayoor Karimiani, E.; Costagliola, S.; Deconinck, N.; Kadhim, H.; Macke, E.; Lanpher, B.C.; Klee, E.W.; Łusakowska, A.; Kostera-Pruszczyk, A.; Hahn, A.; Schrank, B.; Nishino, I.; Ogasawara, M.; El Sherif, R.; Stojkovic, T.; Nelson, I.; Bonne, G.; Cohen, E.; Boland-Augé, A.; Deleuze, J.-F.; Meng, Y.; Handford, P.A.; Töpf, A.; Straub, V.; Pacak, C.A.; Rivera-Zengotita, M.L.; Draper, I.; Walter, G.A.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 6 May 2021, 108(5):840-856)
Academic Journal
Pinhal, D.; Domingues, R.R.; Bruels, C.C.; Shivji, M.S.; Ferrette, B.L.S.; Gadig, O.B.F.; Martins, C.
In: Reviews in Fish Biology and Fisheries . (Reviews in Fish Biology and Fisheries, 1 September 2020, 30(3):501-517)
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[AR] Bruels, C.C.
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