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breed in kennis  -  sterk in techniek
Over ons Praktische zaken Waar vindt u ons D.T. Roelofs-Prins

Publicaties

The burden of TTN variants in the genomic era:: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations

An interconnected data infrastructure to support large-scale rare disease research

Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Solving unsolved rare neurological diseases: a Solve-RD viewpoint