X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a... von Řeboun, M, Rybová, J, Dobrovolný, R, Včelák, J, Veselková, T, Štorkánová, G, Mušálková, D, Hřebíček, M, Ledvinová, J, Magner, M, Zeman, J, Pešková, K, Dvořáková, L

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Natural history of the respiratory involvement in Anderson-Fabry disease von Magage, S, Lubanda, J.-C, Susa, Z, Bultas, J, Karetová, D, Dobrovolný, R, Hřebíček, M, Germain, D. P, Linhart, A

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A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population von Merta, Miroslav, Reiterova, Jana, Ledvinova, Jana, Poupětová, Helena, Dobrovolný, Robert, Ryšavá, Romana, Maixnerová, Dita, Bultas, Jan, Motáň, Jiří, Slivkova, Jitka, Sobotova, Doris, Smrzova, Jana, Tesař, Vladimir

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Relationship between X-inactivation and clinical involvement in fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population von DOBROVOLNY, Robert, DVORAKOVA, Lenka, LEDVINOVA, Jana, MAGAGE, Sudheera, BULTAS, Jan, LUBANDA, Jean C, ELLEDER, Milan, KARETOVA, Debora, PAVLIKOVA, Marketa, HREBICEK, Martin

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Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases von Asfaw, Befekadu, Ledvinová, Jana, Dobrovolńy, Robert, Bakker, Henk D, Desnick, Robert J, van Diggelen, Otto P, de Jong, Jan G N, Kanzaki, Tamotsu, Chabas, Amparo, Maire, Irene, Conzelmann, Ernst, Schindler, Detlev

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Recurrence of Fabry disease as a result of paternal germline mosaicism for α‐galactosidase a gene mutation von Dobrovolný, Robert, Dvořáková, Lenka, Ledvinová, Jana, Magage, Sudheera, Bultas, Jan, Lubanda, Jean C., Poupětová, Helena, Elleder, Milan, Karetová, Debora, Hřebíček, Martin

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More on clinical renal genetics von Grünfeld, Jean-Pierre, Hwu, Wl, Chien, Yh, Lee, Nc, Chiang, Sc, Dobrovolny, R, Huang, Ac, Yeh, Hy, Chao, Mc, Lin, Sj, Kitagawa, T, Desnick, Rj, Hsu, Lw, Van Keimpema, L, Nevens, F, Vanslembrouck, R, Van Oijen, Gh, Hoffmann, Al, Dekker, Hm, De Man, Ra, Drenth, Jph, Alamovitch, S, Plaisier, E, Favrole, P, Prost, C, Chen, Z, Van Agrmael, T, Marro, B, Ronco, P, Zivna, M, Hulkova, H, Matignon, M, Hodanova, K, Vylet'al, P, Kalbacova, M, Baresova, V, Sikora, J, Blazkova, H, Zivny, J, Ivanek, R, Stranecky, V, Sovova, J, Claes, K, Lerut, E, Fryns, Jp, Hart, Ps, Hart, Tc, Adams, Jn, Pawtowski, A, Clemessy, M, Gasc, Jm, Gubler, Mc, Antignac, C, Elleder, M, Kapp, K, Grimbert, P, Bleyer, Aj, Kmoch, S, Brown, Ej, Schlöndorff, Js, Becker, Dj, Tsukaguchi, H, Uschinski, Al, Higgs, Hn, Henderson, Jm, Pollak, Mr

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More on Clinical Renal Genetics von Grünfeld, Jean-Pierre, Hwu, Wl, Chien, Yh, Lee, Nc, Chiang, Sc, Dobrovolny, R, Huang, Ac, Yeh, Hy, Chao, Mc, Lin, Sj, Kitagawa, T, Desnick, Rj, Hsu, Lw, Van Keimpema, L, Nevens, F, Vanslembrouck, R, Van Oijen, Gh, Hoffmann, Al, Dekker, Hm, De Man, Ra, Drenth, Jph, Alamovitch, S, Plaisier, E, Favrole, P, Prost, C, Chen, Z, Van Agrmael, T, Marro, B, Ronco, P, Zivna, M, Hulkova, H, Matignon, M, Hodanova, K, Vylet'al, P, Kalbacova, M, Baresova, V, Sikora, J, Blazkova, H, Zivny, J, Ivanek, R, Stranecky, V, Sovova, J, Claes, K, Lerut, E, Fryns, Jp, Hart, Ps, Hart, Tc, Adams, Jn, Pawtowski, A, Clemessy, M, Gasc, Jm, Gubler, Mc, Antignac, C, Elleder, M, Kapp, K, Grimbert, P, Bleyer, Aj, Kmoch, S, Brown, Ej, Schlöndorff, Js, Becker, Dj, Tsukaguchi, H, Uschinski, Al, Higgs, Hn, Henderson, Jm, Pollak, Mr

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More on clinical renal genetics von Grünfeld, Jean-Pierre, Hwu, Wl, Chien, Yh, Lee, Nc, Chiang, Sc, Dobrovolny, R, Huang, Ac, Yeh, Hy, Chao, Mc, Lin, Sj, Kitagawa, T, Desnick, Rj, Hsu, Lw, Van Keimpema, L, Nevens, Frederik, Vanslembrouck, Ragna, Van Oijen, Gh, Hoffmann, Al, Dekker, Hm, De Man, Ra, Drenth, Jph, Alamovitch, S, Plaisier, E, Favrole, P, Prost, C, Chen, Z, Van Agrmael, T, Marro, B, Ronco, P, Zivna, M, Hulkova, H, Matignon, M, Hodanova, K, Vylet'al, P, Kalbacova, M, Baresova, V, Sikora, J, Blazkova, H, Zivny, J, Ivanek, R, Stranecky, V, Sovova, J, Claes, Kathleen, Lerut, Evelyne, Fryns, Jean-Pierre, Hart, Ps, Hart, Tc, Adams, Jn, Pawtowski, A, Clemessy, M, Gasc, Jm, Gubler, Mc, Antignac, C, Elleder, M, Kapp, K, Grimbert, P, Bleyer, Aj, Kmoch, S, Brown, Ej, Schlöndorff, Js, Becker, Dj, Tsukaguchi, H, Uschinski, Al, Higgs, Hn, Henderson, Jm, Pollak, Mr

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FABRY DISEASE – CLINICAL MANIFESTATIONS AND GENETICS von Karetova, D., Bultas, J., Linhart, A., Lubanda, J.C., Magage, S., Uklikova, P., Palecek, T., Ledvinova, J., Poupetova, H., Dobrovolny, R., Hrebicek, M., Elleder, M.

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FABRY DISEASE - CLINICAL MANIFESTATIONS AND GENETICS von Karetova, D., Bultas, J., Linhart, A., Lubanda, J.C., Magage, S., Uklikova, P., Palecek, T., Ledvinova, J., Poupetova, H., Dobrovolny, R., Hrebicek, M., Elleder, M.

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IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing von Brejchova, K, Dudakova, L, Skalicka, P, Dobrovolny, R, Masek, P, Putzova, M, Moosajee, M, Tuft, SJ, Davidson, AE, Liskova, P

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European summer temperatures since Roman times von Luterbacher, J, Werner, J P, Smerdon, J E, Fernández-Donado, L, González-Rouco, F J, Barriopedro, D, Ljungqvist, F C, Büntgen, U, Zorita, E, Wagner, S, Esper, J, McCarroll, D, Toreti, A, Frank, D, Jungclaus, J H, Barriendos, M, Bertolin, C, Bothe, O, Brázdil, R, Camuffo, D, Dobrovolný, P, Gagen, M, García-Bustamante, E, Ge, Q, Gómez-Navarro, J J, Guiot, J, Hao, Z, Hegerl, G C, Holmgren, K, Klimenko, V V, Martín-Chivelet, J, Pfister, C, Roberts, N, Schindler, A, Schurer, A, Solomina, O, von Gunten, L, Wahl, E, Wanner, H, Wetter, O, Xoplaki, E, Yuan, N, Zanchettin, D, Zhang, H, Zerefos, C

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Effects of weather and climate on fluctuations of grain prices in southwestern Bohemia, 1725–1824 CE von Brázdil, Rudolf, Lhoták, Jan, Chromá, KateÅina, Dobrovolný, Petr

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Droughts in the Czech Lands, 1090–2012 AD von Brázdil, R, Dobrovolný, P, Trnka, M, Kotyza, O, Řezníčková, L, ValáÅ¡ek, H, Zahradníček, P, Å těpánek, P

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Climate fluctuations in the Czech Republic during the period 1961–2005 von Brázdil, Rudolf, Chromá, Kateřina, Dobrovolný, Petr, Tolasz, Radim

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Fatalities associated with the severe weather conditions in the Czech Republic, 2000–2019 von Brázdil, Rudolf, Chromá, KateÅina, Dolák, LukáÅ, ÅehoÅ, Jan, Åeznícková, Ladislava, Zahradnícek, Pavel, Dobrovolný, Petr

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Documentary-based climate reconstructions in the Czech Lands 1501–2020 CE and their European context von Brázdil, Rudolf, Dobrovolný, Petr, MikÅ¡ovský, JiÅí, PiÅ¡oft, Petr, Trnka, Miroslav, Možný, Martin, Balek, Jan

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A tree-ring perspective on temporal changes in the frequency and intensity of hydroclimatic extremes in the territory of the Czech Republic since 761 AD von Dobrovolný, P, Rybníček, M, Kolář, T, Brázdil, R, Trnka, M, Büntgen, U

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Meteorological and climatological triggers of notable past and present bark beetle outbreaks in the Czech Republic von Brázdil, Rudolf, Zahradník, Petr, Szabó, Péter, Chromá, KateÅina, Dobrovolný, Petr, Dolák, LukáÅ, Trnka, Miroslav, ÅehoÅ, Jan, Suchánková, Silvie

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