The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Source
Nature genetics - ISSN 1061-4036-57 (2025) p. 2361-2370
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy
Source
Epilepsia - ISSN 0013-9580-66:5 (2025) p. 1613-1627