If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Roberto Giorda is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 11 Similar Profiles

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Weisschuh, N., Sturm, M., Baumann, B., Audo, I., Ayuso, C., Bocquet, B., Branham, K., Brooks, B. P., Catalá-Mora, J., Giorda, R., Heckenlively, J. R., Hufnagel, R. B., Jacobson, S. G., Kellner, U., Kitsiou-Tzeli, S., Matet, A., Martorell Sampol, L., Meunier, I., Rudolph, G., Sharon, D. & 5 others, Stingl, K., Streubel, B., Varsányi, B., Wissinger, B. & Kohl, S., 2020, In : Human Mutation. 41, p. 255-264 10 p.

Research output: Contribution to journalArticle

  • Novel epilepsy phenotype associated to a known SCN8A mutation

    Epifanio, R., Zanotta, N., Giorda, R., Bardoni, A. & Zucca, C., Apr 2019, In : Seizure. 67, p. 15-17 3 p.

    Research output: Contribution to journalArticle