Présentation
Publications scientifiques
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2024
Steroid-Resistant Nephrotic Syndrome due to Variants Is Not Associated With ..., Kidney Int Rep
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2023
A wave of deep intronic mutations in X-linked Alport syndrome., Kidney Int
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2020
Pseudouridylation defect due to and mutations causes nephrotic syndrome wit..., Proc Natl Acad Sci U S A
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2019
Human C-terminal CUBN variants associate with chronic proteinuria and normal ..., J Clin Invest
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2019
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De..., Am J Hum Genet
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2017
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis an..., J Clin Invest