Associated Papers
Case report of a child with nephronophthisis from South Africa.
Bhimma R et al.
Bmc Pediatrics, 2024
Interstitial Nephritis: A Change in Diagnosis With Next-Generation Sequencing.
Choi M et al.
Kidney International Reports, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.
Molinari E et al.
European Journal of Human Genetics : Ejhg, 2018
Splicing in the pathogenesis, diagnosis and treatment of ciliopathies.
Wheway G et al.
Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms, 0
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