G. Thierry

发表

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

C. Le Caignec, B. Isidor, V. Cormier-Daire, 2011, Human mutation.

Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops

C. Bénéteau, S. Blesson, C. Le Caignec, 2014, Clinical genetics.

Autosomal insertional translocation mimicking an X-linked mode of inheritance.

C. Le Caignec, O. Pichon, A. David, 2013, European journal of medical genetics.

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

B. V. van Bon, B. D. de Vries, A. Toutain, 2012, American journal of medical genetics. Part A.

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

R. Touraine, C. Elie, J. Auger, 2016, Hormone Research in Paediatrics.

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

B. V. van Bon, B. D. de Vries, A. Toutain, 2012, American journal of medical genetics. Part A.