Associated Papers
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
40533884 (PubMed )
Supplement: CGE-109-136-s001.docx
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
Pasquetti D et al.
International Journal of Molecular Sciences, 2023
Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A et al.
Nature Communications, 2023
38097619 (PubMed )
Supplement: 41467_2023_43878_MOESM4_ESM.xlsx › M1
Polygenic risk affects the penetrance of monogenic kidney disease.
Khan A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37214819 (PubMed )
Supplement: media-1.xlsx › M1
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Lindemann CH et al.
Kidney International Reports, 2023
36938073 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P et al.
Scientific Reports, 2016
27499327 (PubMed )
Supplement: srep30850-s4.xlsx › Sheet1
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