Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met)

by Gucev, Zoran, Slavevska, Nevenka, Tasic, Velibor, Laban, Nevenka, Pop-Jordanova, Nada, Danilovski, Dragan, Woolf, Jacqueline, Cole, Duncan
Published 2011

Clinical and Functional Characterization of URAT1 Variants

by Tasic, Velibor, Hynes, Ann Marie, Kitamura, Kenichiro, Cheong, Hae Il, Lozanovski, Vladimir J., Gucev, Zoran, Jutabha, Promsuk, Anzai, Naohiko, Sayer, John A.
Published 2011

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

by Hwang, Daw-Yang, Dworschak, Gabriel C., Kohl, Stefan, Saisawat, Pawaree, Vivante, Asaf, Hilger, Alina C., Reutter, Heiko M., Soliman, Neveen A., Bogdanovic, Radovan, Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm
Published 2014

First-line therapy in atypical hemolytic uremic syndrome: consideration on infants with a poor prognosis

by Szarvas, Nóra, Szilágyi, Ágnes, Tasic, Velibor, Nushi-Stavileci, Valbona, Sofijanova, Aspazija, Gucev, Zoran, Szabó, Miklós, Szabó, Attila, Szeifert, Lilla, Reusz, György, Rusai, Krisztina, Arbeiter, Klaus, Müller, Thomas, Prohászka, Zoltán
Published 2014

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations

by Simpkin, Arabella, Cochran, Elaine, Cameron, Fergus, Dattani, Mehul, de Bock, Martin, Dunger, David B., Forsander, Gun, Guran, Tulay, Harris, Julie, Isaac, Iona, Hussain, Khalid, Kleta, Robert, Peters, Catherine, Tasic, Velibor, Williams, Rachel, Yap Kok Peng, Fabian, O'Rahilly, Stephan, Gorden, Philipp, Semple, Robert K., Bockenhauer, Detlef
Published 2014

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum**

by Keppler-Noreuil, Kim M, Sapp, Julie C, Lindhurst, Marjorie J, Parker, Victoria ER, Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L, Huson, Susan M, Whitehouse, Richard W, Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E, Fraser, Jamie L, Gucev, Zoran, Crow, Yanick J, Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A, Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L, Sutton, V Reid, Tasic, Velibor, Graham, John M, Geer, Joseph, Henderson, Alex, Semple, Robert K, Biesecker, Leslie G
Published 2014

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

by Saisawat, Pawaree, Kohl, Stefan, Hilger, Alina C., Hwang, Daw-Yang, Gee, Heon Yung, Dworschak, Gabriel C., Tasic, Velibor, Pennimpede, Tracie, Natarajan, Sivakumar, Sperry, Ethan, Matassa, Danilo S., Stajić, Nataša, Bogdanovic, Radovan, de Blaauw, Ivo, Marcelis, Carlo L.M., Wijers, Charlotte H.W., Bartels, Enrika, Schmiedeke, Eberhard, Schmidt, Dominik, Mäzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Ludwig, Michael, Nöhen, Markus M., Draaken, Markus, Brosens, Erwin, Heij, Hugo, Tibboel, Dick, Herrmann, Bernhard G., Solomon, Benjamin D., de Klein, Annelies, van Rooij, Iris A.L.M., Esposito, Franca, Reutter, Heiko M., Hildebrandt, Friedhelm
Published 2013