학술논문
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1~10
Academic Journal
Battaglia, R.A.; Faridounnia, M.; Robinson, J.; Kinghorn, K.; Ezzell, J.A.; Snider, N.T.; Beltran, A.; Bouldin, T.W.; Armao, D.; Bharucha-Goebel, D.; Bönnemann, C.G.; Hooper, J.E.; Opal, P.
In: Molecular Biology of the Cell . (Molecular Biology of the Cell, 10 November 2023, 34(12))
Academic Journal
Horvat, D.E.; Eye, P.G.; Whitehead, M.T.; Bharucha-Goebel, D.; Roth, E.; Anwar, T.; Tsuchida, T.; Kousa, Y.A.
In: Pediatric Neurology . (Pediatric Neurology, September 2023, 146:40-43)
Academic Journal
Bharucha-Goebel, D.; Saade, D.; Todd, J.; Lehky, T.; Norato, G.; Armao, D.; Bouldin, T.; Averion, G.; Hu, Y.; Mohassel, P.; Donkervoort, S.; Corse, A.; Foley, A.; DeLong, T.; Acquaye, N.; Hinkley, L.; Mendoza, C.; Hoke, A.; Gray, S.; Bönnemann, C.
In Neuromuscular Disorders October 2023 33 Supplement 1:S189-S190
Academic Journal
Bharucha-Goebel, D.; Saade, D.; Todd, J.; Huryn, L.; Norato, G.; DeLong, T.; Averion, G.; Donkervoort, S.; Foley, A.; Acquaye, N.; Mendoza, C.; Gray, S.; Zein, W.; Bonnemann, C.
In Neuromuscular Disorders October 2023 33 Supplement 1:S189-S189
Academic Journal
Foley, A.; Donkervoort, S.; Bharucha-Goebel, D.; Saade, D.; Flynn, L.; Grunseich, C.; Hu, Y.; Bruels, C.; Littel, H.; Estrella, E.; Krishnamoorthy, K.; Chao, K.; Pais, L.; Kunkel, L.; Kang, P.; Bönnemann, C.
In Neuromuscular Disorders October 2023 33 Supplement 1:S114-S114
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)
FP.35 Myostatin concentration is unreliable as a biomarker of disease progression in dysferlinopathy
Academic Journal
Moore, U.; Simon, E. Fernandez; Day, J.; Jones, K.; Bharucha-Goebel, D.; Pestronk, A.; Walter, M.; Paradas, C.; Stojkovic, T.; Bravver, E.; Pegoraro, E.; Mendell, J.; Guglieri, M.; Straub, V.; Díaz-Manera, J.
In Neuromuscular Disorders October 2022 32 Supplement 1:S113-S113
Academic Journal
Bharucha-Goebel, D.; Saade, D.; Todd, J.; Norato, G.; Jain, M.; Waite, M.; Armao, D.; Foley, A.; Lehky, T.; Averion, G.; Hu, Y.; Mohassel, P.; Hoke, A.; DeLong, T.; Acquaye, N.; Hinkley, L.; Chichester, J.; Mendoza, C.; Soldatos, A.; Gray, S.; Bönnemann, C.
In Neuromuscular Disorders October 2022 32 Supplement 1:S94-S94
Academic Journal
Zygmunt, A.; Deng, S.; Donkervoort, S.; Mohassel, P.; Bharucha-Goebel, D.; Saade, D.; Neuhaus, S.; Dastgir, J.; Acquaye, N.; Hinkley, L.; Lehky, T.; Foley, A.; Bönnemann, C.
In Neuromuscular Disorders October 2022 32 Supplement 1:S57-S57
Academic Journal
Bharucha-Goebel, D.; Saade, D.; Paredes, E.; Hu, Y.; Saxena, A.; McCoy, P.; Averion, G.; Jain, M.; Norato, G.; Cheung, K.; Waite, M.; Foley, R.; Lehky, T.; Gray, S.; Bönnemann, C.
In Neuromuscular Disorders October 2021 31 Supplement 1:S149-S149
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[AR] Bharucha-Goebel, D.
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