Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
Renal-hepatic-pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature.
Zhu H et al.
Bmc Pediatrics, 2022
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König JC et al.
Kidney International Reports, 2022
36090483 (PubMed )
Supplement: mmc1.pdf
Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype.
Cagan Appak Y et al.
Journal of Pediatric Genetics, 2020
Isosorbide dinitrate in nephronophthisis treatment.
Strong A et al.
American Journal of Medical Genetics. Part A, 2018
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