Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency von Baresova, Veronika, Skopova, Vaclava, Sikora, Jakub, Patterson, David, Sovova, Jana, Zikanova, Marie, Kmoch, Stanislav

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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes von Živná, M, Kidd, K, Zaidan, M, Vyleťal, P, Barešová, V, Hodaňová, K, Sovová, J, Hartmannová, H, Votruba, M, Trešlová, H, Jedličková, I, Sikora, J, Hůlková, H, Robins, V, Hnízda, A, Živný, J, Papagregoriou, G, Mesnard, L, Beck, BB, Wenzel, A, Tory, K, Häeffner, K, Wolf, MTF, Bleyer, ME, Sayer, JA, Ong, ACM, Balogh, L, Jakubowska, A, Łaszkiewicz, A, Clissold, R, Shaw-Smith, C, Munshi, R, Haws, RM, Izzi, C, Capelli, I, Santostefano, M, Graziano, C, Scolari, F, Sussman, A, Trachtman, H, Decramer, S, Matignon, M, Grimbert, P, Shoemaker, LR, Stavrou, C, Abdelwahed, M, Belghith, N, Sinclair, M, Claes, K, Kopel, T, Moe, S, Deltas, C, Knebelmann, B, Rampoldi, L, Kmoch, S, Bleyer, AJ

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More on Clinical Renal Genetics von 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

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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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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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Neither Poor nor Cool: Practising Food Self-Provisioning in Allotment Gardens in the Netherlands and Czechia von Sovová, Lucie, Veen, Esther J.

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Exploring the transformative potential of urban food von Hebinck, A., Selomane, O., Veen, E., de Vrieze, A., Hasnain, S., Sellberg, M., Sovová, L., Thompson, K., Vervoort, J., Wood, A.

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Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6 von Hartmannová, Hana, Piherová, Lenka, Tauchmannová, Kateřina, Kidd, Kendrah, Acott, Philip D, Crocker, John F S, Oussedik, Youcef, Mallet, Marcel, Hodaňová, Kateřina, Stránecký, Viktor, Přistoupilová, Anna, Barešová, Veronika, Jedličková, Ivana, Živná, Martina, Sovová, Jana, Hůlková, Helena, Robins, Vicki, Vrbacký, Marek, Pecina, Petr, Kaplanová, Vilma, Houštěk, Josef, Mráček, Tomáš, Thibeault, Yves, Bleyer, Anthony J, Kmoch, Stanislav

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Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease von Živná, Martina, Kidd, Kendrah, Přistoupilová, Anna, Barešová, Veronika, DeFelice, Mathew, Blumenstiel, Brendan, Harden, Maegan, Conlon, Peter, Lavin, Peter, Connaughton, Dervla M, Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Vrbacká, Alena, Vyleťal, Petr, Živný, Jan, Votruba, Miroslav, Sovová, Jana, Hůlková, Helena, Robins, Victoria, Perry, Rebecca, Wenzel, Andrea, Beck, Bodo B, Seeman, Tomáš, Viklický, Ondřej, Rajnochová-Bloudíčková, Sylvie, Papagregoriou, Gregory, Deltas, Constantinos C, Alper, Seth L, Greka, Anna, Bleyer, Anthony J, Kmoch, Stanislav

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Impact of various oxidation processes used for removal of sulfamethoxazole on the quality of treated wastewater von Tulková, T., Fučík, J., Kozáková, Z., Procházková, P., Krčma, F., Gargošová, H. Zlámalová, Mravcová, L., Sovová, K.

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Development and validation of a multi-locus DNA metabarcoding method to identify endangered species in complex samples von Arulandhu, Alfred J., Staats, Martijn, Hagelaar, Rico, Voorhuijzen, Marleen M., Prins, Theo W., Scholtens, Ingrid, Costessi, Adalberto, Duijsings, Danny, Rechenmann, François, Gaspar, Frédéric B., Barreto Crespo, Maria Teresa, Holst-Jensen, Arne, Birck, Matthew, Burns, Malcolm, Haynes, Edward, Hochegger, Rupert, Klingl, Alexander, Lundberg, Lisa, Natale, Chiara, Niekamp, Hauke, Perri, Elena, Barbante, Alessandra, Rosec, Jean-Philippe, Seyfarth, Ralf, Sovová, Tereza, Van Moorleghem, Christoff, van Ruth, Saskia, Peelen, Tamara, Kok, Esther

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Degrowth from the East – between quietness and contention. Collaborative learnings from the Zagreb Degrowth Conference von Pungas, Lilian, Kolínský, Ondřej, Smith, Thomas S J, Cima, Ottavia, Fraňková, Eva, Gagyi, Agnes, Sattler, Markus, Sovová, Lucie

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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing von Kirby, Andrew, Gnirke, Andreas, Jaffe, David B, Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T, Cabili, Moran N, Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet'al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E, Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J, Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C, Xavier, Ramnik J, Pollak, Martin R, Alper, Seth L, Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J, Lander, Eric S, Daly, Mark J

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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia von Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Přistoupilová, Anna, Hodaňová, Kateřina, Vyleťal, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J., Spong, Richard S., Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart L.

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Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis von Kmochová, Tereza, Kidd, Kendrah O., Orr, Andrew, Hnízda, Aleš, Hartmannová, Hana, Hodaňová, Kateřina, Vyleťal, Petr, Naušová, Karolína, Brinsa, Vítězslav, Trešlová, Helena, Sovová, Jana, Barešová, Veronika, Svojšová, Klára, Vrbacká, Alena, Stránecký, Viktor, Robins, Victoria C., Taylor, Abbigail, Martin, Lauren, Rivas-Chavez, Ana, Payne, Riley, Bleyer, Heidi A., Williams, Adrienne, Rennke, Helmut G., Weins, Astrid, Short, Patrick J., Agrawal, Varun, Storsley, Leroy J., Waikar, Sushrut S., McPhail, Ellen D., Dasari, Surendra, Leung, Nelson, Hewlett, Tom, Yorke, Jake, Gaston, Daniel, Geldenhuys, Laurette, Samuels, Mark, Levine, Adam P., West, Michael, Hůlková, Helena, Pompach, Petr, Novák, Petr, Weinberg, Richard B., Bedard, Karen, Živná, Martina, Sikora, Jakub, Bleyer, Anthony J., Kmoch, Stanislav

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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes von Živná, Martina, Kidd, Kendrah, Zaidan, Mohamad, Vyleťal, Petr, Barešová, Veronika, Hodaňová, Kateřina, Sovová, Jana, Hartmannová, Hana, Votruba, Miroslav, Trešlová, Helena, Jedličková, Ivana, Sikora, Jakub, Hůlková, Helena, Robins, Victoria, Hnízda, Aleš, Živný, Jan, Papagregoriou, Gregory, Mesnard, Laurent, Beck, Bodo B., Wenzel, Andrea, Tory, Kálmán, Häeffner, Karsten, Wolf, Matthias T.F., Bleyer, Michael E., Sayer, John A., Ong, Albert C.M., Balogh, Lídia, Jakubowska, Anna, Łaszkiewicz, Agnieszka, Clissold, Rhian, Shaw-Smith, Charles, Munshi, Raj, Haws, Robert M., Izzi, Claudia, Capelli, Irene, Santostefano, Marisa, Graziano, Claudio, Scolari, Francesco, Sussman, Amy, Trachtman, Howard, Decramer, Stephane, Matignon, Marie, Grimbert, Philippe, Shoemaker, Lawrence R., Stavrou, Christoforos, Abdelwahed, Mayssa, Belghith, Neila, Sinclair, Matthew, Claes, Kathleen, Kopel, Tal, Moe, Sharon, Deltas, Constantinos, Knebelmann, Bertrand, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J.

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Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease von Lenk, Guy M., Szymanska, Krystyna, Debska-Vielhaber, Grazyna, Rydzanicz, Malgorzata, Walczak, Anna, Bekiesinska-Figatowska, Monika, Vielhaber, Stefan, Hallmann, Kerstin, Stawinski, Piotr, Buehring, Sonja, Hsu, David A., Kunz, Wolfram S., Meisler, Miriam H., Ploski, Rafal

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Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure von Živná, Martina, Hůlková, Helena, Matignon, Marie, Hodaňová, Kateřina, Vylet'al, Petr, Kalbáčová, Marie, Barešová, Veronika, Sikora, Jakub, Blažková, Hana, Živný, Jan, Ivánek, Robert, Stránecký, Viktor, Sovová, Jana, Claes, Kathleen, Lerut, Evelyne, Fryns, Jean-Pierre, Hart, P. Suzanne, Hart, Thomas C., Adams, Jeremy N., Pawtowski, Audrey, Clemessy, Maud, Gasc, Jean-Marie, Gübler, Marie-Claire, Antignac, Corinne, Elleder, Milan, Kapp, Katja, Grimbert, Philippe, Bleyer, Anthony J., Kmoch, Stanislav

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Family history of cardiovascular disease in athletes: 2 sports medicine clinics, 4 systems of preparticipation screening, 7 years of work. Is it time for a change? von Jiravska Godula, B, Pesova, P, Sovova, M, Moravcova, K, Ozana, J, Sovova, E, Jiravsky, O

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