Hannie Kremer - Concepedia

Author

Hannie Kremer

Also Known As

Arjan P de Brouwer, H KREMER, H Kremer, H P H Kremer, H P Kremer, H. Kremer, H. P. H. Kremer, H. P.H. Kremer, H.P.H Kremer, H.P.H. Kremer

307

Publications

16.7K

Citations

H-Index

191

Concepts

All Affiliations

Radboud University Nijmegen Radboud University Medical Center Radboud Institute for Molecular Life Sciences University of Antwerp Johannes Gutenberg University Mainz

About

Hannie Kremer is an author at Radboud University Nijmegen specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	54	102	11.2K
2	Arts	21	26	1.6K
3	Health Sciences	13	14	1.3K
4	Natural Sciences	12	12	1.6K
5	Engineering	3	3	188

Hannie Kremer

182

Publications

15.7K

Citations

H-Index

Page 1

	Year	Citations
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg, Nature Genetics Molecular PhysiologySignal TransductionGenetic DisorderReceptor Tyrosine KinaseGenetics	2001	1.7K
<i>SDH5</i> , a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma Huai‐Xiang Hao, Oleh Khalimonchuk, Margit Schraders, Science Succinate DehydrogenaseGeneticsMolecular BiologyMolecular GeneticsHuman Sdh5 Gene	2009	700
Localization of the gene for Cowden disease to chromosome 10q22–23 Marcel Nelen, G.W. Padberg, E Peeters, Nature Genetics Cowden DiseaseGeneticsPathogenesisPathologyMolecular Genetics	1996	669
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill, Human Mutation GeneticsGenetic EpidemiologyPathologyHearing HealthGenomics	2018	493
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene Hannie Kremer, Robert Kraaij, S. P. A. Toledo, Nature Genetics Male PseudohermaphroditismInfertilityAndrologyMendelian DisorderHormonal Receptor	1995	356
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations Marcel Nelen, Hannie Kremer, Irene B. M. Konings, European Journal of Human Genetics Cowden DiseaseGeneticsPathogenesisPathologyMolecular Medicine	1999	342
A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases Kornelia Neveling, Ilse Feenstra, Christian Gilissen, Human Mutation Exome SequencingGeneticsGenetic EpidemiologyDiagnosisPathology	2013	336
Occupational Noise, Smoking, and a High Body Mass Index are Risk Factors for Age-related Hearing Impairment and Moderate Alcohol Consumption is Protective: A European Population-based Multicenter Study Erik Fransén, Vedat Topsakal, Jan Hendrickx, Journal of the Association for Research in Otolaryngology Health EffectHealth SciencesOccupational NoiseEnvironmental HealthAudiology	2008	274
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C Michaela Auer‐Grumbach, Andrea Olschewski, Lea Papić, Nature Genetics Ankyrin DomainScapuloperoneal SmaMolecular BiologyPathologyMedicine	2009	267
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Nature Communications	2016	255

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