Items where authors include "Prontera, P"

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

Schirwani, S, Albaba, S, Carere, DA et al. (52 more authors) (2021) Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. American Journal of Medical Genetics Part A, 185 (11). pp. 3446-3458. ISSN 1552-4825