Search Results - Sumit Punj

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  1. 1
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    Dual Monogenic Cystic Disease Case Report: Autosomal Dominant Polycystic Kidney Disease and Autosomal Dominant Polycystic Liver Disease Autoría: Anna Katya Brossart, Kathryn Curry, Sumit Punj, Tarek Darwish, Hossein Tabriziani

    Published 2026
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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    Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease Autoría: Dinah Clark, Robert Burns, Michelle S. Bloom, Karen Phaik Har Lim, Lili Li, Lisa M. Vincent, Jing Xie, Yuan Xue, Sumit Punj

    Published 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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    Role of Comprehensive Renal Genetic Testing in Diagnosing a RMND‐1 Mitochondrial Disease in Two Adult Cases Exhibiting Variable Disease Phenotypes Autoría: Quinn Stein, Ryan Mascarenhas, Sumit Punj, Maggie Westemeyer, Emily Hendricks, Tessa Pitman, Meg Hager, Nour Al Haj Baddar, Kristen Connors, Alexa Bacher, Robin Larson, Lauren Zec, Jennifer Stoddard

    Published 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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