Marios Kambouris - Concepedia

Author

Marios Kambouris

Also Known As

Kambouris, Marios, M Kambouris, M Yung, M. Kambouris, MARIOS KAMBOURIS, Mariam Kambouris, Marios Kambouris, Nadia Sakati

Publications

2.7K

Citations

H-Index

Concepts

All Affiliations

Yale University King Faisal Specialist Hospital & Research Centre Hamad Medical Corporation Sidra Medical and Research Center Hamad bin Khalifa University

About

Marios Kambouris is an author at Yale University specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	13	16	1.2K
2	Health Sciences	2	2	437
3	Engineering	1	1	41
4	Language Studies	1	1	13
5	Public Health	1	1	14

Marios Kambouris

Publications

2.3K

Citations

H-Index

Page 1

	Year	Citations
Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes J. Claiborne Stephens, David Reich, David Goldstein, The American Journal of Human Genetics	1998	523
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome Paul Coucke, Andy Willaert, Marja W. Wessels, Nature Genetics Metabolic SyndromeArterial Tortuosity SyndromeMolecular PhysiologyAngiogenesisVascular Adaptation	2006	392
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome John A. Martignetti, A. Al Aqeel, Wafaa Sewairi, Nature Genetics Bone DiseaseRheumatologySclerostinMusculoskeletal ResearchAutoimmune Disease	2001	311
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome S. Hadj‐Rabia, Gaëlle Brideau, Yasser Al‐Sarraj, Genetics in Medicine Genetic DisorderGeneticsPathologyDegenerative DiseaseCldn10 Mutation	2017	98
Localization of the Gene for a Novel Autosomal Recessive Neurodegenerative Huntington-Like Disorder to 4p15.3 Marios Kambouris, Saeed Bohlega, Abdulrahman AlTahan, The American Journal of Human Genetics Neurodegenerative DiseasesMolecular NeuroscienceMendelian DisorderGenetic DisorderGenetics	2000	85
Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC) Saeed Bohlega, Marios Kambouris, Monique Shahid, Neurology	2000	77
Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations Marios Kambouris, Hanaa Banjar, I. Moggari, European Journal of Pediatrics Molecular Diagnostic TechniquesMendelian DisorderGenetic DisorderMedicineGenetics	2000	54
Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome Euthymia Vargìami, Athina Ververi, Maria Kyriazi, American Journal of Medical Genetics Part A	2013	54
A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14 Colin A. Hodgkinson, Saeed Bohlega, Sayeda Abu‐Amero, Neurology	2002	50
Localization of the gene for X‐linked nephrogenic diabetes insipidus to Xq28 Marios Kambouris, Stephen R. Dlouhy, James A. Trofatter, American Journal of Medical Genetics	1988	49

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