Associated Papers
Renal cell carcinoma in an adult-onset ESRD patient with nephronophthisis harboring NPHP3 deletion: A case report.
Li ZL et al.
Heliyon, 2024
Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.
Li J et al.
Pediatric Nephrology (berlin, Germany), 2023
Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.
Toyama M et al.
Plos One, 2022
35536790 (PubMed )
Supplement: pone.0268321.s003.xlsx › Sheet1
A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.
Yang W et al.
Frontiers in Cell and Developmental Biology, 2021
34249922 (PubMed )
Supplement: Table_1.xls › MQ1-2-3
Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5.
Wang X et al.
Frontiers in Genetics, 2021
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3
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