Items where authors include "Roscioli, T"

Article

Levy, MA, McConkey, H, Kerkhof, J et al. (84 more authors) (2022) Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. HGG Advances, 3 (1). 100075. ISSN 2666-2477

Roscioli, T, Kamsteeg, E-J, Buysse, K et al. (32 more authors) (2012) Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nature Genetics, 44 (5). pp. 581-585. ISSN 1061-4036