CIMMARUTA, CHIIARA
CIMMARUTA, CHIIARA
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Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase
2018 Cimmaruta, Chiiara; Citro, V.; Andreotti, G.; Liguori, L.; Cubellis, M. V.; Hay Mele, B.
Assessment of gene variant amenability for pharmacological chaperone therapy with 1-deoxygalactonojirimycin in fabry disease
2020 Lukas, J.; Cimmaruta, C.; Liguori, L.; Pantoom, S.; Iwanov, K.; Petters, J.; Hund, C.; Bunschkowski, M.; Hermann, A.; Cubellis, M. V.; Rolfs, A.
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase | 1.1 Articolo in rivista | 2018 | Cimmaruta, Chiiara; Citro, V.; Andreotti, G.; Liguori, L.; Cubellis, M. V.; Hay Mele, B. | |
| Assessment of gene variant amenability for pharmacological chaperone therapy with 1-deoxygalactonojirimycin in fabry disease | 1.1 Articolo in rivista | 2020 | Lukas, J.; Cimmaruta, C.; Liguori, L.; Pantoom, S.; Iwanov, K.; Petters, J.; Hund, C.; Bunschkowski, M.; Hermann, A.; Cubellis, M. V.; Rolfs, A. |