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Your search keyword '"Arts, Heleen H"' showing total 8 results

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8 results on '"Arts, Heleen H"'

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1. Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

2. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

3. Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

4. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

5. Non-invasive sources of cells with primary cilia from pediatric and adult patients

7. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

8. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

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