Monogenic diseases with low bone mineral density: clinical and genetic evaluation...

Genetic-Clinical study of skeletal dysplasias, with a focus on osteochondrodysplasias...

Study of PTPN11 and KRAS genes in patients with Noonan and Noonan-like syndrome...

Genetic determinants in Noonan syndrome and in Noonan-like syndromes: clinical and...

Genetic basis of vertebral segmentation defects: genetic and clinical study focused...

Characterization of the nutritional status of patients with Noonan syndrome and Noonan-like...

Genetic study of patients with Rothmund-Thomson syndrome

Genetic and clinical study of patients with progerioid syndromes

Clinical and molecular study of patients with Noonan syndrome and Noonan-related...

Genomic study of individuals with congenital limb deficiency