Roberto Giorda

9PUBLICATIONS
74CO-AUTHORS
Child and adolescent developmentNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Industrial biotechnology diagnostics (incl. biosensors)Infant and child health
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Publications (9)

|Oct 04, 2023
Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion.

Alice Decio, Roberto Giorda, Elena Panzeri

|Mar 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Maria Solaki, Britta Baumann, Peggy Reuter

|Jan 21, 2022
SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.

Roberta Epifanio, Roberto Giorda, Maria Carolina Merlano

|Dec 10, 2021
Exploring the Contribution of Proximal Family Risk Factors on SLC6A4 DNA Methylation in Children with a History of Maltreatment: A Preliminary Study.

Francesco Craig, Eleonora Mascheroni, Roberto Giorda

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