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Functional Analysis of a De Novo Monoallelic NEK8 Variant Supports Pathogenicity for a Polycystic Kidney Disease Phenotype by Whitney S. Thompson, Chuan Chen, Hana Yang, Theodora A. Potretzke, Tracy A. Baker, Sara Hassan, Carl H. Cramer, Peter C. Harris, Kun Ling, Christian Hanna
Published 2025-07-01Get full text
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P201: The clinical utility of next-generation sequencing (NGS)-based genetic testing in pediatric polycystic kidney disease by Elif Bozkurt, Hana Yang, Jennifer Kemppainen, Tracy Baker, Mohamad Sheikh Najeeb, Whitney Thompson, Cheryl Tran, David Sas, Carl Cramer, Fouad Chebib, Neera Dahl, Vicente Torres, Filippo Pinto E Vairo, Peter Harris, Christian Hanna
Published 2025-01-01Get full text
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Characterizing the ADPKD-IFT140 Phenotypic Signature With Deep Learning and Advanced Imaging Biomarkers by Ahmad Ghanem, Fadi George Munairdjy Debeh, Abdul Hamid Borghol, Nikola Zagorec, Amanda L. Tapia, Byron Smith, Stefan Paul, Abdul Basit, Bassel AlKhatib, Nay Nader, Marie Therese Bou Antoun, Adriana V. Gregory, Hana Yang, Rachel S. Schauer, Neera K. Dahl, Christian Hanna, Vicente E. Torres, Timothy L. Kline, Peter C. Harris, Emilie Cornec-Le Gall, Fouad T. Chebib
Published 2025-08-01Get full text
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