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