Présentation
Publications scientifiques
-
2024Journal (source)Nat CommunGPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n...
-
2024Journal (source)Nat Commun
Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity...
-
Journal (source)Cold Spring Harbor Laboratory
medRxiv
-
Journal (source)Cold Spring Harbor Laboratory
GPATCH11 variants cause mis-splicing and early-onset retin...
-
Journal (source)Journal of Allergy and Clinical Immunology
Rab44 regulates murine mast cell-driven anaphylaxis through kinesin-1-depende...
-
2020Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
-
2017Journal (source)Am. J. Hum. Genet.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.