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TÃTULO: GENETIC DISEASES AND MOLECULAR GENETICS
AUTORES: Athanasiou, Y; Zavros, M; Arsali, M; Papazachariou, L; Demosthenous, P; Savva, I; Voskarides, K; Deltas, C; Pierides, A; Feriozzi, S; Perrin, A; West, M; Nicholls, K; Sunder-Plassmann, G; Torras, J; Neumann, P; Cybulla, M; Cofiell, R; Kukreja, A; Bedard, K; Yan, Y; Mickle, A; Ogawa, M; Bedrosian, C; Faas, S; Meszaros, K; Pruess, L; Gondan, M; Ritz, E; Schaefer, F; Testa, A; Spoto, B; Leonardis, D; Sanguedolce, MC; Pisano, A; Parlongo, MR; Tripepi, G; Mallamaci, F; Zoccali, C; Trujillano, D; Bullich, G; Ballarin, J; Torra, R; Estivill, X; Ars, E; Kleber, ME; Delgado, G; Grammer, TB; Silbernagel, G; Kraemer, BK; Maerz, W; Riccio, E; Pisani, A; Abdalla, AA; Malone, AF; Winn, MP; Goodship, T; Cronin, C; Conlon, PJ; Casserly, LF; Nishio, S; Sakuhara, Y; Matsuoka, N; Yamamoto, J; Nakazawa, D; Nakagakaki, T; Abo, D; Shibazaki, S; Atsumi, T; Mazzinghi, B; Giglio, S; Provenzano, A; Becherucci, F; Sansavini, G; Ravaglia, F; Roperto, RM; Murer, L; Lasagni, L; Materassi, M; Romagnani, P; Schmidts, M; Christou, S; Cortes, C; McInerney-Leo, A; Kayserili, H; Zankl, A; Peter, S; Duncan, E; Wicking, C; Beales, PL; Mitchison, H; Magestro, M; Vekeman, F; Nichols, T; Karner, P; Duh, MS; Srivastava, B; Van Doorn-Khosrovani, SBVW; Zonnenberg, BA; Musetti, C; Quaglia, M; Ghiggeri, GM; Fogazzi, GB; Settanni, F; Boldorini, RL; Lazzarich, E; Airoldi, A; Izzo, C; Giordano, M; Stratta, P; Garrido, P; Fernandes, JC; Ribeiro, S; Belo, L; Costa, EC ; Reis, F; Santos-Silva, A; Youssef, DM; Alshal, AS; Salah, K; Rashed, AE; Kingswood, JC; Jozwiak, S; Belousova, E; Frost, M; Kuperman, R; Bebin, EM; Korf, B; Flamini, JR; Kohrman, MH; Sparagana, S; Wu, JY; Berkowitz, N; Miao, S; Segal, S; Ridolfi, A; Bissler, JJ; Franz, DN; Oud, MM; Van Bon, BW; Bongers, EM; Hoischen, A; Marcelis, CL; De Leeuw, N; Mol, SJ; Mortier, G; Knoers, NV; Brunner, HG; Roepman, R; Arts, HH; Van Eerde, AM; Van Der Zwaag, B; Lilien, MR; Renkema, KY; De Borst, MH; Van Haaften, G; Giles, RH; Navis, GJ; Knoers, NVAM; K.-C Lu; S.-L Su; Gigante, M; Santangelo, L; Diella, S; Argentiero, L; Cianciotta, F; Martino, M; Ranieri, E; Grandaliano, G; Giordano, M; Gesualdo, L; Fernandes, J; Ribeiro, S; Garrido, P; Sereno, J; Costa, E; Reis, F; Santos-Silva, A; Chub, O; Aires, I; Polidori, D; Santos, AR; Brito Costa, A; Simoes, C; Rueff, J; Nolasco, F; Calado, J; Van Der Tol, L; Biegstraaten, M; Florquin, S; Vogt, L; Van Den Bergh Weerman, MA; Hollak, CE; Hughes, DA; Lachmann, RH; Oliveira, JP ; Ortiz, A; Svarstad, E; Terryn, W; Tondel, C; Waldek, S; Wanner, C; West, ML; Linthorst, GE; Kaesler, N; Brandenburg, V; Theuwissen, E; Vermeer, C; Floege, J; Schlieper, G; Kruger, T; Xydakis, D; Goulielmos, G; Antonaki, E; Stylianoy, K; Sfakianaki, M; Papadogiannakis, A; Dafnis, E; Mdimegh, S; Ben Hadj Mbarek - Fredj, I; Moussa, A; Omezzine, A; Zellama, D; Mabrouk, S; Zouari, N; Hassayoun, S; Chemli, J; Achour, A; Bouslama, A; Abroug, S; Spoto, B; Leonardis, D; Politi, C; Pisano, A; Cutrupi, S; Testa, A; Parlongo, RM; D'Arrigo, G; Tripepi, G; Mallamaci, F; Zoccali, C; Mdimegh, S; Ben Hadj Mbarek - Fredj, I; Moussa, A; Omezzine, A; Mabrouk, S; Zouari, N; Hassayoun, S; Chemli, J; Zellama, D; Achour, A; Bouslama, A; Abroug, S; Hohenstein-Scheibenecker, K; Schmidt, A; Stylianou, KG; Kyriazis, J; Androvitsanea, A; Tzanakakis, M; Maragkaki, E; Petrakis, J; Stratakis, S; Poulidaki, R; Vardaki, E; Petra, C; Statigis, S; Perakis, K; Daphnis, E; Cybulla, M; West, M; Nicholls, K; Torras, J; Neumann, P; Sunder-Plassmann, G; Feriozzi, S; Metzinger-Le Meuth, V; Taibi, F; M'Baya-Moutoula, E; Louvet, L; Massy, Z; Metzinger, L; L.-Y Mani; Sidler, D; Vogt, B; Nikolskaya, N; Cox, JA; Kingswood, JC; Smirnov, A; Zarayski, M; Kayukov, I; Karunnaya, H; Sipovski, V; Kukoleva, L; Dobronravov, V; On Behalf Of The Fabry Outcome Survey Renal Working Group, ; - On Behalf Of The MAURO Working Group, ; Uk1ok Consortium, ; - On Behalf Of The MAURO Working Group, ; On Behalf Of The Fabry Outcome Survey Renal Working Group, ; ...Mais
PUBLICAÇÃO: 2014, FONTE: Nephrology Dialysis Transplantation, VOLUME: 29, NÚMERO: suppl 3

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TÃTULO: Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction
AUTORES: Martins, E ; Pinho, T; Carpenter, S; Leite, S; Garcia, R; Madureira, A; Oliveira, JP ;
PUBLICAÇÃO: 2014, FONTE: Revista Portuguesa de Cardiologia, VOLUME: 33, NÚMERO: 9

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TÃTULO: Deletion of the 5 ' exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
AUTORES: Maria Joao N Nabais Sa; Nathalie Fieremans; Arjan P M de Brouwer; Rita Sousa; Fernando T E Teixeira e Costa; Maria Jose Brito; Fernanda Carvalho; Marcia Rodrigues; Francisco Teixeira de Sousa; Joana Felgueiras; Fernando Neves; Adelino Carvalho; Umbelina Ramos; Jose Ramon Vizcaino; Susana Alves; Filipa Carvalho ; Guy Froyen; Oliveira, JP ;
PUBLICAÇÃO: 2013, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, NÚMERO: 11

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TÃTULO: Fibrosis: a key feature of Fabry disease with potential therapeutic implications Full Text
AUTORES: Frank Weidemann; Maria D Sanchez Nino; Juan Politei; Oliveira, JP ; Christoph Wanner; David G Warnock; Alberto Ortiz;
PUBLICAÇÃO: 2013, FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, NÚMERO: 1

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TÃTULO: Genetic diseases and molecular genetics
AUTORES: Legendre, C; Cohen, D; Delmas, Y; Feldkamp, T; Fouque, D; Furman, R; Gaber, O; Greenbaum, L; Goodship, T; Haller, H; Herthelius, M; Hourmant, M; Licht, C; Moulin, B; Sheerin, N; Trivelli, A; Bedrosian, CL; Loirat, C; Legendre, C; Babu, S; Cohen, D; Delmas, Y; Furman, R; Gaber, O; Greenbaum, L; Hourmant, M; Jungraithmayr, T; Lebranchu, Y; Riedl, M; Sheerin, N; Bedrosian, CL; Loirat, C; Sheerin, N; Legendre, C; Greenbaum, L; Furman, R; Cohen, D; Gaber, AO; Bedrosian, C; Loirat, C; Haller, H; Licht, C; Muus, P; Legendre, C; Douglas, K; Hourmant, M; Herthelius, M; Trivelli, A; Goodship, T; Remuzzi, G; Bedrosian, C; Loirat, C; Kourouklaris, A; Ioannou, K; Athanasiou, I; Demetriou, K; Panagidou, A; Zavros, M; Rodriguez C, NY; Blasco, M; Arcal, C; Quintana, LF; Rodriguez de Cordoba, S; Campistol, JM; Bachmann, N; Eisenberger, T; Decker, C; Bolz, HJ; Bergmann, C; Pesce, F; Cox, SN; Serino, G; De Palma, G; Sallustio, FP; Schena, F; Falchi, M; Pieri, M; Stefanou, C; Zaravinos, A; Erguler, K; Lapathitis, G; Dweep, H; Sticht, C; Anastasiadou, N; Zouvani, I; Voskarides, K; Gretz, N; Deltas, CC; Ruiz, A; Bonny, O; Sallustio, F; Serino, G; Curci, C; Cox, S; De Palma, G; Schena, F; Kemter, E; Sklenak, S; Aigner, B; Wanke, R; Kitzler, TM; Moskowitz, JL; Piret, SE; Lhotta, K; Tashman, A; Velez, E; Thakker, RV; Kotanko, P; Leierer, J; Rudnicki, M; Perco, P; Koppelstaetter, C; Mayer, G; Sa, MJN; Alves, S; Storey, H; Flinter, F; Willems, PJ; Carvalho, F; Oliveira, JP ; Arsali, M; Papazachariou, L; Demosthenous, P; Lazarou, A; Hadjigavriel, M; Stavrou, C; Yioukkas, L; Voskarides, K; Deltas, C; Zavros, M; Pierides, A; Arsali, M; Demosthenous, P; Papazachariou, L; Voskarides, K; Kkolou, M; Hadjigavriel, M; Zavros, M; Deltas, C; Pierides, A; Toka, HR; Dibartolo, S; Lanske, B; Brown, EM; Pollak, MR; Familiari, A; Zavan, B; Sanna Cherchi, S; Fabris, A; Cristofaro, R; Gambaro, G; D'Angelo, A; Anglani, F; Toka, H; Mount, D; Pollak, M; Curhan, G; Sengoge, G; Bajari, T; Kupczok, A; von Haeseler, A; Schuster, M; Pfaller, W; Jennings, P; Weltermann, A; Blake, S; Sunder-Plassmann, G; Kerti, A; Csohany, R; Wagner, L; Javorszky, E; Maka, E; Tulassay, T; Tory, K; Kingswood, J; Nikolskaya, N; Mbundi, J; Kingswood, J; Jozwiak, S; Belousova, E; Frost, M; Kuperman, R; Bebin, M; Korf, B; Flamini, R; Kohrman, M; Sparagana, S; Wu, J; Brechenmacher, T; Stein, K; Bissler, J; Franz, D; Kingswood, J; Zonnenberg, B; Frost, M; Cheung, W; Wang, J; Brechenmacher, T; Lam, D; Bissler, J; Budde, K; Ivanitskiy, L; Sowershaewa, E; Krasnova, T; Samokhodskaya, L; Safarikova, M; Jana, R; Jitka, S; Obeidova, L; Kohoutova, M; Tesar, V; Evrengul, H; Ertan, P; Serdaroglu, E; Yuksel, S; Mir, S; Yang n Ergon, E; Berdeli, A; Zawada, A; Rogacev, K; Rotter, B; Winter, P; Fliser, D; Heine, G; Bataille, S; Moal, V; Berland, Y; Daniel, L; Rosado, C; Bueno, E; Fraile, P; Lucas, C; Garcoa-Cosmes, P; Tabernero, JM; Gonzalez, R; Rosado, C; Bueno, E; Fraile, P; Lucas, C; Garcia-Cosmes, P; Tabernero, JM; Gonzalez, R; Silska-Dittmar, M; Zaorska, K; Malke, A; Musielak, A; Ostalska-Nowicka, D; Zachwieja, J; K d r, V; Uz, E; Yigit, A; Altuntas, A; Yigit, B; Inal, S; Uz, E; Sezer, M; Yilmaz, R; Visciano, B; Porto, C; Acampora, E; Russo, R; Riccio, E; Capuano, I; Parenti, G; Pisani, A; Feriozzi, S; Perrin, A; West, M; Nicholls, K; Sunder-Plassmann, G; Torras, J; Cybulla, M; Conti, M; Angioi, A; Floris, M; Melis, P; Asunis, AM; Piras, D; Pani, A; Warnock, D; Guasch, A; Thomas, C; Wanner, C; Campbell, R; Vujkovac, B; Okur, I; Biberoglu, G; Ezgu, F; Tumer, L; Hasanoglu, A; Bicik, Z; Akin, Y; Mumcuoglu, M; Ecder, T; Paliouras, C; Mattas, G; Papagiannis, N; Ntetskas, G; Lamprianou, F; Karvouniaris, N; Alivanis, P; ...Mais
PUBLICAÇÃO: 2013, FONTE: Nephrology Dialysis Transplantation, VOLUME: 28, NÚMERO: suppl 1

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