Associated Papers
Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies.
Halawi AA et al.
Kidney International Reports, 2023
37441483 (PubMed )
Supplement: mmc1.pdf
Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology.
Sharma S
Journal of Pediatric Genetics, 2020
Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.
Abdullah U et al.
Nephrology (carlton, Vic.), 2017
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.
Halbritter J et al.
Journal of Medical Genetics, 2012
Select a paper to view details