Associated Papers
From Variant of Uncertain Significance to Likely Pathogenic: Adult-Onset Nephronophthisis Linked to NPHP4 p.T680M.
Sıla Koç N
Kidney International Reports, 2025
Response to the Letter to the Editor Entitled "From Variant of Unknown Significance to Likely Pathogenic: Adult-Onset - Nephronophthisis Linked to NPHP4 p.T680M".
König JC et al.
Kidney International Reports, 2025
Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.
Yavas C et al.
Clinical Genetics, 2025
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.
Ercoskun P et al.
Clinical Genetics, 2025
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König JC et al.
Kidney International Reports, 2022
36090483 (PubMed )
Supplement: mmc1.pdf
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
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