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Nine Knoers

University Medical Center Groningen(NL)

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123

Papers

6.5K

Citations

47

h-index

75

i10-index

Nine Knoers is an academic researcher from University Medical Center Groningen. The author has contributed to research in topics: Genomics and Rare Diseases & Genetic and Kidney Cyst Diseases & Renal and related cancers. The author has an h-index of 47, co-authored 105 publications.

Research Topics

Genomics and Rare Diseases Genetic and Kidney Cyst Diseases Renal and related cancers Ion Transport and Channel Regulation Ion channel regulation and function

Papers by this author

works

Exome sequencing identifies <i>DYNC2H1</i> mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

2013 · Journal of Medical Genetics · 140 citations

https://doi.org/10.1136/jmedgenet-2012-101284

Miriam Schmidts Heleen H. Arts Ernie M.H.F. Bongers Zhimin Yap

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

2018 · European Journal of Human Genetics · 72 citations

https://doi.org/10.1038/s41431-018-0115-5

Hanns Lochmüller Dorota M. Badowska Rachel Thompson Nine Knoers

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

2010 · Pediatric Surgery International · 70 citations

https://doi.org/10.1007/s00383-010-2688-0

Charlotte H. W. Wijers Ivo de Blaauw Carlo Marcelis René Wijnen

X-exome sequencing identifies a <i>HDAC8</i> variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

2012 · Journal of Medical Genetics · 70 citations

https://doi.org/10.1136/jmedgenet-2012-100921

Magdaléna Harakaľová Marie-José van den Boogaard Richard J. Sinke Stef van Lieshout

Outcomes and comorbidities of SCN1A-related seizure disorders

2018 · Epilepsy & Behavior · 47 citations

https://doi.org/10.1016/j.yebeh.2018.09.041

Iris Lange Boudewijn Gunning Anja C. M. Sonsma Lisette van Gemert

Non-invasive sources of cells with primary cilia from pediatric and adult patients

2015 · Cilia · 41 citations

https://doi.org/10.1186/s13630-015-0017-x

Henry Ajzenberg Gisela G. Slaats Marijn F. Stokman Heleen H. Arts

Research topics

topics

Genomics and Rare Diseases

Genetic and Kidney Cyst Diseases

Renal and related cancers

Ion Transport and Channel Regulation

Ion channel regulation and function

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