Nine V. V. A. M. Knoers - Genetic Mutations

Author Information

Dr. Nine V. A. M. Knoers is a prominent figure in the field of Genetics, currently affiliated with the Department of Genetics at the University Medical Centre Groningen, located in Groningen, the Netherlands. Her extensive work has made significant contributions to the understanding of genetic factors in chronic kidney disease and various other genetic disorders.

Research Contributions

Dr. Knoers has made substantial contributions to the field of genetics, particularly in the context of chronic kidney disease, genetic diagnostics, and rare diseases. Some of her notable recent works include studies on the diagnostic yield of massively parallel sequencing in chronic kidney disease, the genetic underpinnings of Gitelman-like syndrome, and mTOR-activating mutations causing kidney tubulopathy and cardiomyopathy. Her research often explores the implications of genetic findings for clinical practice and potential therapeutic approaches, such as drug repurposing for rare diseases and exon skipping for treating epidermolysis bullosa.

Aliases

Throughout her career, Dr. Nine V. A. M. Knoers has published under various aliases, including Nine V V A M Knoers, N V A M Knoers, Nine V. Knoers, N. V. Knoers, N. V. A. M. Knoers, Nine Knoers, N Knoers, Nine V. V. A. M. Knoers, N V Knoers, Nine V A M Knoers, Nine V Knoers, N.v.a.m. Knoers, Nine V.a.m. Knoers, and Nine Vam Knoers.

Publication and Citation Metrics

Metric Value
Citation Count 18,265
h-index 73
Paper Count 386

Publications:

DOI: 10.1681/ASN.2022030252

Year: 2022

DOI: 10.1016/j.tips.2021.01.003

Year: 2021

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