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Plos One|January 20, 2018
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral refluxAmelie T van der Ven, Birgit Kobbe, Stefan Kohl, et al.
Bioorganic & Medicinal Chemistry|January 1, 1997
Ras oncoprotein inhibitors: the discovery of potent, ras nucleotide exchange inhibitors and the structural determination of a drug-protein complexA G Taveras, S W Remiszewski, R J Doll, et al.
Kidney International|June 18, 2004
Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneitySongshan Jiang, Jordan Gitlin, Fang-Ming Deng, et al.
Journal of the American Society of Nephrology : JASN|April 7, 2017
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid SignalingAsaf Vivante, Nina Mann, Hagith Yonath, et al.
American Journal of Human Genetics|November 12, 2019
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor MutationsNina Mann, Franziska Kause, Erik K Henze, et al.
The Journal of Urology|May 3, 2024
Expert Consensus on Pediatric Urodynamics Reporting Using Modified Delphi TechniqueKristen M Meier, Claudia Mata, Jill L Kaar, et al.
European Urology Open Science|October 3, 2022
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary TractChen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, et al.
Radiology|September 13, 2022
Myocardial Fibrosis at Cardiac MRI Helps Predict Adverse Clinical Outcome in Patients with Mitral Valve ProlapseStefano Figliozzi, Georgios Georgiopoulos, Pedro M Lopes, et al.
American Journal of Human Genetics|August 4, 2015
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter DevelopmentAsaf Vivante, Marc-Jens Kleppa, Julian Schulz, et al.
Radiology. Cardiothoracic Imaging|June 20, 2024
Arrhythmic Mitral Valve Prolapse Phenotype: An Unsupervised Machine Learning Analysis Using a Multicenter Cardiac MRI RegistryRalph Kwame Akyea, Stefano Figliozzi, Pedro M Lopes, et al.
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