Associated Papers
Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.
Feng Y et al.
Orphanet Journal of Rare Diseases, 2024
39363361 (PubMed )
Supplement: 13023_2024_3379_MOESM1_ESM.pdf
Genetic examination for fetuses with increased nuchal translucency by exome sequencing.
Sun Y et al.
The Journal of Obstetrics and Gynaecology Research, 2023
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König JC et al.
Kidney International Reports, 2022
36090483 (PubMed )
Supplement: mmc1.pdf
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X et al.
Journal of Medical Genetics, 2022
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
Tory K et al.
Kidney International, 2009
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
Otto EA et al.
Human Mutation, 2008
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