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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.

  • 15 Similar Profiles
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Dyslexia Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Methylation Medicine & Life Sciences
Dictyostelium Medicine & Life Sciences
Premature Infants Medicine & Life Sciences
Serotonin Plasma Membrane Transport Proteins Medicine & Life Sciences

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Research Output 1985 2019

  • 5433 Citations
  • 38 h-Index
  • 170 Article
  • 2 Chapter
  • 1 Review article

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., Jan 1 2019, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

Color Vision Defects
Alleles
Computer Simulation
Genes
Phenotype
Epilepsy
Phenotype
Mutation
Brain Diseases
Autistic Disorder

Novel epilepsy phenotype associated to a known SCN8A mutation

Epifanio, R., Zanotta, N., Giorda, R., Bardoni, A. & Zucca, C., Apr 1 2019, In : Seizure. 67, p. 15-17 3 p.

Research output: Contribution to journalArticle

Serotonin Plasma Membrane Transport Proteins
Methylation
Anger
Pain
Genes

Telomere length and salivary cortisol stress reactivity in very preterm infants

Provenzi, L., Giorda, R., Fumagalli, M., Brambilla, M., Mosca, F., Borgatti, R. & Montirosso, R., 2019, In : Early Human Development. 129, p. 1-4 4 p.

Research output: Contribution to journalArticle