Nine Knoers - Concepedia

Author

Nine Knoers

Also Known As

Jeroen Bakkers, Knoers, Nine V. A. M., Monnens, Leo A. H., N Knoers, N V A M Knoers, N. Knoers, N. V. A. M. KNOERS, N. V. A. M. Knoers, N.V.A.M. Knoers, Nine Knoers

123

Publications

6.5K

Citations

H-Index

Concepts

All Affiliations

University Medical Center Utrecht Radboud University Nijmegen Radboud University Medical Center Utrecht University University Medical Center Groningen

About

Nine Knoers is an author at University Medical Center Utrecht specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	20	21	2.7K
2	Natural Sciences	2	2	132
3	Education	1	1	180
4	Biochemistry	1	1	99
5	Biology	1	1	111

Nine Knoers

Publications

5.5K

Citations

H-Index

Page 1

	Year	Citations
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Brain	2017	558
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Nature Gene DosageGeneticsHuman PolymorphismMolecular GeneticsChromosome 16P11.2	2011	474
Mutations in the pre-replication complex cause Meier-Gorlin syndrome Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsDna ReplicationMolecular Genetics	2011	250
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 Cecilie Bredrup, Sophie Saunier, Machteld M. Oud, The American Journal of Human Genetics UrologyMendelian DisorderRenal InsufficiencyGenetic DisorderGenetics	2011	235
Dominant missense mutations in ABCC9 cause Cantú syndrome Magdaléna Harakaľová, J. J. T. van Harssel, Stef van Lieshout, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsPathogenesisPathology	2012	199
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus Ans M.W. van den Ouweland, Jos Dreesen, Marian Verdijk, Nature Genetics Insulin SignalingSystems BiologyVasopressin Type 2PhysiologyDiabetes	1992	186
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability Glen R. Monroe, G. W. J. Frederix, Sanne M. C. Savelberg, Genetics in Medicine Intellectual ImpairmentGenetic TestingMendelian DisorderTraditional Diagnostic TrajectoryWhole-exome Sequencing	2016	180
Characterization of the Gene Encoding Human Sarcolipin (SLN), a Proteolipid Associated with SERCA1: Absence of Structural Mutations in Five Patients with Brody Disease Alex Odermatt, Peter E.M. Taschner, Stephen W. Scherer, Genomics	1997	173
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain Henny H. Lemmink, Nine Knoers, Lothar Károlyi, Kidney International Predominant LocalizationMendelian DisorderGitelman SyndromeGenetic DisorderGenetics	1998	158
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in <i><scp>SCN</scp>1A</i>‐related seizure phenotypes Iris Lange, Boudewijn Gunning, Anja C. M. Sonsma, Epilepsia	2018	155

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