Associated Papers
Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.
Aypek H et al.
Renal Failure, 2025
41032671 (PubMed )
Supplement: IRNF_A_2547306_SM0962.docx
Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.
Watson D et al.
American Journal of Medical Genetics. Part A, 2025
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Nigro E et al.
Genes, 2023
37372416 (PubMed )
Supplement: genes-14-01236-s001.zip › Supplementary_Tables_S2-S5.pdf
Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.
Steinle J et al.
American Journal of Medical Genetics. Part A, 2022
Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study.
Veatch OJ et al.
Bmc Medical Genomics, 2022
35918752 (PubMed )
Supplement: 12920_2022_1321_MOESM3_ESM.xlsx › Supplemental_Table_3
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
Eisenberger T et al.
Plos One, 2015
25646624 (PubMed )
Supplement: pone.0116680.s016.pdf
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