Colombi, Marina

Further delineation of FKBP14‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature review

Dordoni, C., Ciaccio, C., Venturini, M., Calzavara‐Pinton, P., Ritelli, M., & Colombi, M. (2016) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 20

Skeletal fragility: an emerging complication of Ehlers–Danlos syndrome

Formenti, A. M., Doga, M., Frara, S., Ritelli, M., Colombi, M., Banfi, G., & Giustina, A. (2019) · Endocrine

Connective tissue disorders researchBone health and osteoporosis research

Cited by 17

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing

Colombi, M., Dordoni, C., Cinquina, V., Venturini, M., & Ritelli, M. (2018) · European Journal of Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 16

Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder

Morlino, S., Dordoni, C., Sperduti, I., Clark, C. J., Piedimonte, C., Fontana, A., Colombi, M., Grammatico, P., Copetti, M., & Castori, M. (2019) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 12