Concepedia

Author

Gaëlle Thierry

Génétique Médicale & Génomique Fonctionelle

Also Known As

G. Thierry, Gaelle Thierry, Gaëlle Thierry, Thierry, G.

12

Publications

181

Citations

5

H-Index

6

Concepts

All Affiliations

Génétique Médicale & Génomique FonctionelleInsermBicêtre HospitalInstitut du ThoraxCentre National de la Recherche Scientifique
GT

About

Gaëlle Thierry is an author at Génétique Médicale & Génomique Fonctionelle specializing in inherited metabolic disease, urology, and pathology.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

1

1

31

2

Pathology

1

1

31

3

Genetics

1

1

31

4

Hematology

1

1

31

5

Inherited Metabolic Disease

1

1

31

Gaëlle Thierry

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2

Publications

132

Citations

2

H-Index

YearCitations

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

Gaëlle Thierry, Claire Bénéteau, Olivier Pichon,

American Journal of Medical Genetics Part A

2012

101

Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2

Bertrand Isidor, Martine Le Merrer, G. Ulrich Exner,

Human Mutation

2011

31

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