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https://doi.org/10.33540/294...
Doctoral thesis . 2020 . Peer-reviewed
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Renal genetics in transition

On the clinical relevancy of genetic testing in renal disease
Authors: Snoek, Rozemarijn;

Renal genetics in transition

Abstract

The work in this thesis makes the case for a genetics-first approach in CKD. Though there is a high prevalence of monogenic kidney disease (MGKD), it is underdiagnosed in daily practice. This while an adequate MGKD diagnosis provides patients with life-long improvements in care and well-being. Next to the direct impact on patients, the outcomes of genetic testing increase knowledge on disease processes. More knowledge on MGKD will allow for the identification of more MGKD patients and the improvement of reproductive care.

Country
Netherlands
Related Organizations
Keywords

Genetics; kidney; chronic kidney disease; kidney transplant; preimplantation genetic testing; pregnancy; fertility; ultrasound; gene

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
Green