-
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient
Marsili, L., Overwater, E., Hanna, N., Baujat, G., Baars, M. J. H., Boileau, C., Bonneau, D., Brehin, A. C., Capri, Y., Cheung, H. Y., Dulfer, E., Gerard, M., Gouya, L., Hilhorst-Hofstee, Y., Houweling, A. C., Isidor, B., le Gloan, L., Menke, L. A., Odent, S. & Morice-Picard, F. & 5 others, , 1 May 2020, In: Clinical genetics. 97, 5, p. 723-730 8 p.Research output: Contribution to journal › Article* › Academic › peer-review
-
Nederlands Netwerk Marfan: Netwerken in de zorg voor zeldzaam
Warnink-Kavelaars, J., Baars, M. J. H., Hilhorst-Hofstee, Y., Kempers, M. J. E., Dulfer, S. E., Krapels, I. P. C. & Rosenbrand, N., Feb 2020, In: Nederlands Tijdschrift voor Revalidatiegeneeskunde. 42, 1, p. 28-30 3 p.Research output: Contribution to journal › Article* › Professional
-
Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1
Overwater, E., van Rossum, K., Baars, M. J. H., Maugeri, A. & Houweling, A. C., 1 Dec 2019, In: Netherlands heart journal. 27, 12, p. 637-638 2 p.Research output: Contribution to journal › Comment/Letter to the editor* › Academic
- All publications
