Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
2024 · European Journal of Human Genetics · 52 citations
https://doi.org/10.1038/s41431-024-01634-7
M
Marijn F. Stokman
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Marijn F. Stokman is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Genetic and Kidney Cyst Diseases & Renal and related cancers & Metabolism and Genetic Disorders. The author has an h-index of 13, co-authored 30 publications.
ORCID: 0000-0002-6446-3448Papers by this author
worksNon-invasive sources of cells with primary cilia from pediatric and adult patients
2015 · Cilia · 41 citations
https://doi.org/10.1186/s13630-015-0017-x
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
2018 · Pediatric Nephrology · 33 citations
https://doi.org/10.1007/s00467-018-3958-7
Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies
2018 · Journal of Proteomics · 28 citations
https://doi.org/10.1016/j.jprot.2018.07.008
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder
2025 · Genetics in Medicine · 0 citations
https://doi.org/10.1016/j.gim.2025.101555
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