Rafael Mattera

Publication Activity (10 Years)

Years Active: 2024-2024
Publications (10 Years): 1

Top Topics

Intellectual Disability

Genome Wide Identification

Top Venues

Journal of molecular medicine (Berlin, Germany)

This page only lists publications with an associated author ORCID identifier.

Publications

Marketa Rackova, Rafael Mattera, Michael Svatoň, Filip Fencl, Veronika Kanderova, Karolina Spicakova, Sang Yoon Park, Ondrej Fabian, Miroslav Koblížek, Eva Froňková, Juan S Bonifacino, Karolina Skvarova Kramarzova
Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion. Journal of molecular medicine (Berlin, Germany) (2024)