Search

Search Constraints

You searched for: Author/Creator Mascalzoni, Deborah

Search Results

2. Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly. (March 2019)

3. Dynamic Consent: a potential solution to some of the challenges of modern biomedical research. Issue 1 (December 2017)

5. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. Issue 1 (December 2018)

7. Prevalence and determinants of serum antibodies to SARS-CoV-2 in the general population of the Gardena valley. (3rd August 2021)

8. Prospective epidemiological, molecular, and genetic characterization of a novel coronavirus disease in the Val Venosta/Vinschgau: the CHRIS COVID-19 study protocol. (17th February 2022)

9. Task matters - challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls. (May 2021)

10. The case for open science: rare diseases. Issue 3 (11th September 2020)