Concepedia

Gaëlle Thierry

GT

2

Publications

132

Citations

2

H-Index

2011

Active since

Affiliations

Génétique Médicale & Génomique Fonctionelle(Current)

Inserm

Bicêtre Hospital

Institut du Thorax

Centre National de la Recherche Scientifique

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

Top concepts

Publications per year

2011–2012

2

Publications

2

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

Gaëlle Thierry, Claire Bénéteau, Olivier Pichon et al. · American Journal of Medical Genetics Part A · 2012 · 101 citations · Full text

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

Bertrand Isidor, Martine Le Merrer, G. Ulrich Exner et al. · Human Mutation · 2011 · 31 citations

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