SBALCHIERO, ANNA
SBALCHIERO, ANNA
DIPARTIMENTO DI MEDICINA MOLECOLARE
Endoglin and Systemic Sclerosis: A PRISMA-driven systematic review
2022-01-01 Grignaschi, S.; Sbalchiero, A.; Spinozzi, G.; Palermo, B. L.; Cantarini, C.; Nardiello, C.; Cavagna, L.; Olivieri, C.
Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago
2022-01-01 Sbalchiero, A.; Abu Hweij, Y.; Mazza, T.; Buscarini, E.; Scotti, C.; Pagella, F.; Manfredi, G.; Matti, E.; Spinozzi, G.; Olivieri, C.
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1
2024-01-01 Demille, Desiree; Mcdonald, Jamie; Bernabeu, Carmelo; Racher, Hilary; Olivieri, Carla; Cantarini, Claudia; Sbalchiero, Anna; Thompson, Bryony A.; Jovine, Luca; Shovlin, Claire L.; Dupuis-Girod, Sophie; Lesca, Gaetan; Tusseau, Maud; Ganguly, Arupa; Kasthuri, Raj S.; Jessen, Jaime; Massink, Maarten P. G.; Ichikawa, Shoji; Bayrak-Toydemir, Pinar
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Endoglin and Systemic Sclerosis: A PRISMA-driven systematic review | 1-gen-2022 | Grignaschi, S.; Sbalchiero, A.; Spinozzi, G.; Palermo, B. L.; Cantarini, C.; Nardiello, C.; Cavagna, L.; Olivieri, C. | |
| Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago | 1-gen-2022 | Sbalchiero, A.; Abu Hweij, Y.; Mazza, T.; Buscarini, E.; Scotti, C.; Pagella, F.; Manfredi, G.; Matti, E.; Spinozzi, G.; Olivieri, C. | |
| Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1 | 1-gen-2024 | Demille, Desiree; Mcdonald, Jamie; Bernabeu, Carmelo; Racher, Hilary; Olivieri, Carla; Cantarini, Claudia; Sbalchiero, Anna; Thompson, Bryony A.; Jovine, Luca; Shovlin, Claire L.; Dupuis-Girod, Sophie; Lesca, Gaetan; Tusseau, Maud; Ganguly, Arupa; Kasthuri, Raj S.; Jessen, Jaime; Massink, Maarten P. G.; Ichikawa, Shoji; Bayrak-Toydemir, Pinar |