Effects of biallelic loss of function variants in TBCK, in the context of vesicle...

Functional study of the type XVIII collagen

Identification of novel causative variants and investigation of clinical heterogeneity...

Identification of mutated alleles associated with Auriculo-Condylar Syndrome

Identification and functional analysis of mutations associated with craniosynost...

Functional analysis of periosteum derived cells bearing the FGFR2 p.S252W mutation:...

Study of the molecular and cellular contribution of the periosteum to the craniosynostosis...