Martijn H. Breuning - Concepedia

Author

Martijn H. Breuning

Also Known As

MARTIJN BREUNING, MARTIJN H BREUNING, MARTIJN H. BREUNING, Martijn Breuning, Martijn H Breuning, Martijn H. Breuning, Martijn H. Breuning

190

Publications

17.2K

Citations

H-Index

205

Concepts

All Affiliations

Leiden University Medical Center Leiden University Radboud University Nijmegen Amsterdam UMC Location University of Amsterdam University of Amsterdam

About

Martijn H. Breuning is an author at Leiden University Medical Center specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	52	97	11.1K
2	Natural Sciences	8	8	1.5K
3	Education	2	2	118
4	Health Sciences	2	2	48
5	Engineering	1	1	39

Martijn H. Breuning

147

Publications

16.4K

Citations

H-Index

Page 1

	Year	Citations
<b> <i>PKD2</i> </b> , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein Toshio Mochizuki, Guanqing Wu, Tomohito Hayashi, Science	1996	1.4K
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP Fred Petrif, Rachel H. Giles, Hans G. Dauwerse, Nature Transcriptional RegulationRubinstein-taybi SyndromeMendelian DisorderGenetic DisorderGenetics	1995	1.2K
Unified Criteria for Ultrasonographic Diagnosis of ADPKD York Pei, James Obaji, Annie Dupuis, Journal of the American Society of Nephrology	2008	734
Comparison of phenotypes of polycystic kidney disease types 1 and 2 Nick Hateboer, Marjan A. van Dijk, Nadja Bogdanova, The Lancet GlomerulonephritisUrologyRenal DiseaseRenal FunctionMedicine	1999	621
Mutations in ABCC6 cause pseudoxanthoma elasticum Arthur A. Bergen, Astrid S. Plomp, Ellen J. Schuurman, Nature Genetics Somatic VariantNatural SciencesGeneticsProtein X-ray CrystallographyDna Replication	2000	597
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis Omer T. Njajou, Norbert Vaessen, Marijke Joosse, Nature Genetics Genetic DisorderGeneticsHematologyPathologyMolecular Genetics	2001	497
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease Jeroen Roelfsema, Stefan J. White, Yavuz Ariyürek, The American Journal of Human Genetics Rubinstein-taybi SyndromeMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease	2005	467
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance Yvonne Hendriks, Anja Wagner, Hans Morreau, Gastroenterology Somatic VariantCancer EpidemiologyCancer RiskMedicineGenetic Epidemiology	2004	427
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome Cornelis A. Albers, Dirk S. Paul, Harald Schulze, Nature Genetics Compound InheritanceMendelian DisorderGenetic DisorderGeneticsGenomic Mechanism	2012	419
Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer Juul Wijnen, Hans F. A. Vasen, P. Meera Khan, New England Journal of Medicine	1998	397

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