Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.
Li J et al.
Pediatric Nephrology (berlin, Germany), 2023
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
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.
Sakakibara N et al.
Journal of Human Genetics, 2022
[Enlarged multicystic dysplastic kidneys with oligohydramnios during infancy caused by NPHP3 gene mutation].
Bao Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Renal-hepatic-pancreatic dysplasia-1 diagnosed on comprehensive gene analysis.
Inaguma Y et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2019
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