Éliane Chouery - Concepedia

Author

Éliane Chouery

Also Known As

Aim Ravel, Chouery, Eliane, E Chouery, E. CHOUERY, E. Chouery, E., Chouery, Eliane Chouery, Eliane Chouery-Khoury, Nadine Hanna, Éliane Chouery

182

Publications

4.6K

Citations

H-Index

120

Concepts

All Affiliations

Saint Joseph University Inserm Hôtel-Dieu de France Fondation Jérôme-Lejeune Lebanese University

ÉC

About

Éliane Chouery is an author at Saint Joseph University specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	28	47	2.8K
2	Natural Sciences	3	3	345
3	Arts	2	2	77
4	Engineering	1	1	123
5	Health Sciences	1	1	11

Éliane Chouery

Publications

4.3K

Citations

H-Index

Page 1

	Year	Citations
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus Corinne Stoetzel, Virginie Laurier, Erica E. Davis, Nature Genetics Protein FunctionVertebrate-specific Chaperonin-like ProteinProtein FoldingGeneticsMedicine	2006	284
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti, The American Journal of Human Genetics GeneticsRecessive Hypomyelinating LeukodystrophyMolecular BiologyDegenerative DiseaseMolecular Genetics	2011	267
Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia Lynn Adaimy, Éliane Chouery, Hala Mégarbané, The American Journal of Human Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2007	248
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the <i>RECQL4</i> gene Lionel Van Maldergem, H. Annika Siitonen, Nadine Jalkh, Journal of Medical Genetics	2005	217
Vibratory Urticaria Associated with a Missense Variant in <i>ADGRE2</i> Steven E. Boyden, Avanti Desai, Glenn Cruse, New England Journal of Medicine	2016	195
Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H Valérie Delague, Arnaud Jacquier, Tarik Hamadouche, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsMolecular BiologyMolecular Genetics	2007	159
Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit Katrin Hoffmann, Juliane Müller, Sigmar Stricker, The American Journal of Human Genetics Developmental BiologyPhysiologyEscobar SyndromePrenatal MyastheniaMedicine	2006	151
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency Haifa H. Jabara, Toshiro K. Ohsumi, Janet Chou, Journal of Allergy and Clinical Immunology Primary ImmunodeficiencyImmunogeneticsAutoimmune DiseaseHuman RetrovirusImmunodeficiencies	2013	133
Mutations in<i>TREM2</i>lead to pure early-onset dementia without bone cysts Éliane Chouery, Valérie Delague, Anne Bergougnoux, Human Mutation Neurodegenerative DiseasesLebanese FamilyEngineeringMendelian DisorderGenetic Disorder	2008	123
SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice Ippei Okada, Haruka Hamanoue, Koji Terada, The American Journal of Human Genetics Knockout MouseDevelopmental BiologyOphthalmologyDevelopmental GeneticsOcular Tissue	2010	116

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