Présentation
Chef d'équipe - Professeur des Universités Praticien Hospitalier (PU-PH)
Ressources & publications
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2019Journal (source)Am. J. Hum. Genet.TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De...
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2019Journal (source)Nat Commun
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Gallo...
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2019Journal (source)J. Clin. Invest.
Human C-terminal CUBN variants associate with chronic proteinuria and normal ...
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2017Journal (source)Nat. Genet.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microc...
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2019Journal (source)J. Biol. Chem.
Endoplasmic reticulum-retained podocin mutants are massively degraded by the ...
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2016Journal (source)Traffic
Lysosomal Targeting of Cystinosin Requires AP-3.
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2020Journal (source)J Clin Invest
Human C-terminal CUBN variants associate with chronic proteinuria and normal ...
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2020Journal (source)Stem Cell Res
Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from ...
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2021Journal (source)Kidney Int
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena...