Associated Papers
Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis.
Hellmann C et al.
Pediatric Nephrology (berlin, Germany), 2024
Incorporation of Genetic Studies in the Kidney Transplant Evaluation Clinic: The Value of a Multidisciplinary Approach.
El Ters M et al.
Transplantation, 2023
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Best S et al.
Journal of Medical Genetics, 2022
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Stokman MF et al.
Pediatric Nephrology (berlin, Germany), 2018
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Wang F et al.
Human Genetics, 2014
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J et al.
Human Genetics, 2013
Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.
Hildebrandt F et al.
Kidney International, 2001
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