Anne Dieux-Coëslier

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

Metaphyseal chondrodysplasia with cone‐shaped epiphyses: A specific form involving the lower limbs

M. Holder, M. le Merrer, O. Boute, 2004, American journal of medical genetics. Part A.

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations

T. Wieland, T. Strom, D. Wieczorek, 2017, American journal of medical genetics. Part A.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.