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2018
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
2017
Vivante, Asaf, Hwang, Daw-Yang, Kohl, Stefan, Chen, Jing, Shril, Shirlee, Schulz, Julian, van der Ven, Annelle, Daouk, Ghaleb, Soliman, Neveen A., Kumar, Aravind Selvin, Senguttuvan, Prabha, Kehinde, Elijah O., Tasic, Velibor ORCID: 0000-0002-3377-1245 and Hildebrandt, Friedhelm
(2017).
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.
J. Am. Soc. Nephrol., 28 (1).
S. 69 - 76.
WASHINGTON:
AMER SOC NEPHROLOGY.
ISSN 1533-3450