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Publicaties

Genetic testing in adult-onset chronic kidney disease: unravelling a VARIETY of specific monogenic causes

Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology: rationale and design of a national prospective cohort study

Genetic Determinants of Serum Calcification Propensity and Cardiovascular Outcomes in the General Population

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

A mutation update for the FLNC gene in myopathies and cardiomyopathies

Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology

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