8 results on '"Arts, Heleen H"'
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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
6. Current insights into renal ciliopathies: what can genetics teach us?
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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