Items where authors include "Koolen, D.A."
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Number of items: 2.
Article
Groeneweg, S., van Geest, F.S. orcid.org/0000-0002-6960-5775, MartÃn, M. et al. (119 more authors) (2025) Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration. Nature Communications, 16 (1). 2479. ISSN 2041-1723
Schirwani, S., Woods, E., Koolen, D.A. et al. (8 more authors) (2023) Familial Bainbridge-Ropers syndrome: report of familial ASXL3 inheritance and a milder phenotype. American Journal of Medical Genetics Part A, 191 (1). pp. 29-36. ISSN 1552-4825