Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing
Stein, Quinn, Vostrizansky, Anna, Magay, Yelena, Jandeska, Sara, Westemeyer, Maggie, Hendricks, Emily, Pitman, Tessa, Hager, Meg M., Anand, Akash, Curry, Kathryn, Bloom, Michelle, Al Haj Baddar, Nour, Tabriziani, Hossein, Harrington, Melisa, Punj, Sumit
Published in Kidney international reports (01.06.2024)
Published in Kidney international reports (01.06.2024)
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P108: Kidney features in patients with a molecular diagnosis of Birt-Hogg-Dubé syndrome: A case series
Curry, Kathryn, Hager, Meg, Anand, Akash, Westermeyer, Maggie, Hendricks, Emily, Pitman, Tessa, Collett, Kathleen, Stein, Quinn, Punj, Sumit
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
P403: Role of comprehensive renal genetic testing in diagnosing a RMND-1 mitochondrial disease in two adult cases exhibiting variable disease phenotypes
Stein, Quinn, Mascarenhas, Ryan, Punj, Sumit, Westemeyer, Maggie, Hendricks, Emily, Pitman, Tessa, Hager, Meg, Baddar, Nour, Connors, Kristen, Bacher, Alexa, Larson, Robin, Zec, Lauren, Stoddard, Jennifer
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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