Présentation
Contact
Ressources & publications
-
2017Journal (source)J. Clin. Invest.Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis an...
-
2020Journal (source)J. Inherit. Metab. Dis.
Central nervous system complications in adult cystinosis patients.
-
Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syn...
-
2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
-
2023Journal (source)Kidney Int
A wave of deep intronic mutations in X-linked Alport syndrome.
-
2023Journal (source)iScience
VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using ...
-
2023Journal (source)Clin Genet
Overcoming the challenges associated with identification of deep intronic var...
-
2023Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
-
Journal (source)Proc Natl Acad Sci U S A
Agonists of prostaglandin E2 receptors as potential first in class treatment ...
-
2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.