Edwin C.M. Mariman - Concepedia

Author

Edwin C.M. Mariman

Also Known As

E C M Mariman, E C Mariman, E Mariman, E. C. M. MARIMAN, E. C. M. Mariman, E. C. Mariman, E. C.M. Mariman, E. Mariman, E.C. M. Mariman, E.C. Mariman

313

Publications

14.7K

Citations

H-Index

270

Concepts

All Affiliations

Maastricht University Radboud University Nijmegen Maastricht University Medical Centre Wageningen University & Research

About

Edwin C.M. Mariman is an author at Maastricht University specializing in medicine, genetics, and physiology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	47	115	8.7K
2	Health Sciences	22	32	1.4K
3	Natural Sciences	17	17	2.1K
4	Public Health	16	16	1.1K
5	Education	3	3	74

Edwin C.M. Mariman

189

Publications

12.3K

Citations

H-Index

Page 1

	Year	Citations
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida Nathalie M.J. van der Put, F. Trijbels, Lambertus P. van den Heuvel, The Lancet Natural SciencesGeneticsMolecular BiologyMolecular GeneticsSpina Bifida	1995	870
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
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
Ultrafiltration combined with size exclusion chromatography efficiently isolates extracellular vesicles from cell culture media for compositional and functional studies Birke J. Benedikter, Freek G. Bouwman, Tanja Vajen, Scientific Reports Protein SecretionCell Culture MediaExtracellular MicrovesiclesAnalytical UltracentrifugationSize Exclusion Chromatography	2017	305
Mapping a gene for Noonan syndrome to the long arm of chromosome 12 C. Ruth Jamieson, Ineke van der Burgt, Angela F. Brady, Nature Genetics ChromatinDevelopmental BiologyCytogeneticsGenetic DisorderGenetics	1994	289
Clinical and molecular studies in a large Dutch family with Noonan syndrome Ineke van der Burgt, E. M. Berends, Ed J. P. Lommen, American Journal of Medical Genetics Affected RelativesMendelian DisorderAllergyGenetic DisorderMolecular Studies	1994	280
Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit Lambert van den Heuvel, W. Ruitenbeek, Roel Smeets, The American Journal of Human Genetics Human ComplexGenetic DisorderGeneticsPathogenesisNuclear Gene	1998	264
The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans Vera M. Kalscheuer, Edwin C.M. Mariman, Marga Schepens, Nature Genetics Signal TransductionGrowth HormoneHuman GrowthGeneticsDiabetes	1993	240
A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2) Yasuteru Muragaki, Edwin C.M. Mariman, Sylvia E. C. van Beersum, Nature Genetics Fibril-associated Collagen IxGenetic DisorderGeneticsPathologyα2 Chain	1996	212
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I Ralf Triepels, Lambertus P. van den Heuvel, Jan Loeffen, Annals of Neurology	1999	192

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