Présentation
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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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syn...
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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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2022Journal (source)Hum Mutat
Targeted next-generation sequencing in a large series of fetuses with severe ...