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2018
Zivna, Martina, Kidd, Kendrah, Pristoupilova, Anna 
ORCID: 0000-0003-0047-9405, Baresova, Veronika, DeFelice, Mathew, Blumenstiel, Brendan, Harden, Maegan, Conlon, Peter, Lavin, Peter, Connaughton, Dervla M., Hartmannova, Hana, Hodanova, Katerina, Stranecky, Viktor ORCID: 0000-0002-2599-6479, Vrbacka, Alena, Vylet'al, Petr, Zivny, Jan, Votruba, Miroslav, Sovova, Jana, Hulkova, Helena, Robins, Victoria, Perry, Rebecca, Wenzel, Andrea, Beck, Bodo B., Seeman, Tomas, Viklicky, Ondrej ORCID: 0000-0003-1049-2195, Rajnochova-Bloudickova, Sylvie, Papagregoriou, Gregory, Deltas, Constantinos C., Alper, Seth L., Greka, Anna, Bleyer, Anthony J. and Kmoch, Stanislav
(2018).
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
J. Am. Soc. Nephrol., 29 (9).
S. 2418 - 2432.
WASHINGTON:
AMER SOC NEPHROLOGY.
ISSN 1533-3450
van der Ven, Amelie T., Kobbe, Birgit, Kohl, Stefan, Shril, Shirlee, Pogoda, Hans-Martin, Imhof, Thomas, Ityel, Hadas, Vivante, Asaf, Chen, Jing, Hwang, Daw-Yang, Connaughton, Dervla M., Mann, Nina, Widmeier, Eugen ORCID: 0000-0002-7773-5190, Taglienti, Mary, Schmidt, Johanna Magdalena, Nakayama, Makiko, Senguttuvan, Prabha, Kumar, Selvin, Tasic, Velibor ORCID: 0000-0002-3377-1245, Kehinde, Elijah O., Mane, Shrikant M., Lifton, Richard P., Soliman, Neveen ORCID: 0000-0002-8942-1973, Lu, Weining ORCID: 0000-0002-6570-3044, Bauer, Stuart B., Hammerschmidt, Matthias, Wagener, Raimund and Hildebrandt, Friedhelm
(2018).
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral refluxy.
PLoS One, 13 (1).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203