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Yoon, G., Oberoi, S., Tristani-Firouzi, M., Etheridge, S.P., Quitania, L., Kramer, J.H., Miller, B.L., Fu, Y.H., Ptáček, L.J.
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Published in American journal of medical genetics. Part A (15.02.2006)
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Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24
Plaster, N M, Uyama, E, Uchino, M, Ikeda, T, Flanigan, K M, Kondo, I, Ptácek, L J
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Published in Neurology (12.10.1999)
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Genotype-phenotype correlations of DHP receptor α1-subunit gene mutations causing hypokalemic periodic paralysis
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Published in Neuromuscular disorders : NMD (1997)
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Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
Tristani-Firouzi, M., Jensen, J.L., Donaldson, M.R., Sansone, V., Meola, G., Hahn, A., Bendahhou, S., Kwiecinski, H., Fidzianska, A., Plaster, N., Fu, Y.H., Ptacek, L.J., Tawil, R.
Published in The Journal of clinical investigation (2002)
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Published in The Journal of clinical investigation (2002)
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Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies
Swoboda, K J, Soong, B, McKenna, C, Brunt, E R, Litt, M, Bale, Jr, J F, Ashizawa, T, Bennett, L B, Bowcock, A M, Roach, E S, Gerson, D, Matsuura, T, Heydemann, P T, Nespeca, M P, Jankovic, J, Leppert, M, Ptácek, L J
Published in Neurology (25.07.2000)
Published in Neurology (25.07.2000)
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