Presentation
Financements
Scientific Publications
-
2021Journal (source)Sci Rep
Disruption of pathways regulated by Integrator complex in Galloway-Mowat synd...
-
2020Journal (source)Stem Cell Res
Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from ...
-
Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Pseudouridylation defect due to and mutations causes nephrotic syndrome wit...
-
2019Journal (source)Nat Commun
Defects in tA tRNA modification due to GON7 and YRDC mutations lead to Gallow...
-
2019Journal (source)Am. J. Hum. Genet.
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De...
-
2018Journal (source)J. Biol. Chem.
Endoplasmic reticulum-retained podocin mutants are massively degraded by the ...
-
2017Journal (source)Nat. Genet.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microc...