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Schernthaner-Reiter, M.H., Itariu, B.K., Krebs, M., Promintzer-Schifferl, M., Stulnig, T.M., Tura, A., Anderwald, C.H., Clodi, M., Ludvik, B., Pacini, G., Luger, A., Vila, G.
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Published in Nutrition, metabolism, and cardiovascular diseases (01.04.2019)
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A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers
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Published in European journal of pediatrics (01.05.2016)
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TRIVELLIN, G, DALY, A. F, CASTERMANS, E, VILLA, C, DIMOPOULOS, A, CHITTIBOINA, P, XEKOUKI, P, SHAH, N, METZGER, D, LYSY, P. A, FERRANTE, E, STREBKOVA, N, FAUCZ, F. R, MAZERKINA, N, ZATELLI, M. C, LODISH, M, HORVATH, A, BERTOLLO DE ALEXANDRE, R, MANNING, A. D, LEVY, I, KEIL, M. F, DE LA LUZ SIERRA, M, PALMEIRA, L, YUAN, B, COPPIETERS, W, GEORGES, M, NAVES, L. A, JAMAR, M, BOURS, V, WU, T. J, CHOONG, C. S, BERTHERAT, J, CHANSON, P, KAMENICKY, P, ROSTOMYAN, L, FARRELL, W. E, BARLIER, A, QUEZADO, M, BJELOBABA, I, STOJILKOVIC, S. S, WESS, J, COSTANZI, S, LIU, P, LUPSKI, J. R, BECKERS, A, LARCO, D. O, STRATAKIS, C. A, SCHERNTHANER-REITER, M. H, SZAREK, E, LEAL, L. F, CABERG, J.-H
Published in The New England journal of medicine (2014)
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Published in The New England journal of medicine (2014)
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