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Primrose syndrome: Characterization of the phenotype in 42 patients: Characterization of the phenotype in 42 patients
Melis, D., Carvalho, D., Barbaro-Dieber, T., Espay, A. J., Gambello, M. J., Gener, B., Gerkes, E., Hitzert, M. M., Hove, H. B., Jansen, S., Jira, P. E., Lachlan, K., Menke, L. A., Narayanan, V., Ortiz, D., Overwater, E., Posmyk, R., Ramsey, K., Rossi, A. & Sandoval, R. L. & 10 others, , 1 Jun 2020, In: Clinical genetics. 97, 6, p. 890-901 12 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Expanding the spectrum of CEP55-associated disease to viable phenotypes
Barrie, E. S., Overwater, E., van Haelst, M. M., Motazacker, M. M., Truxal, K. V., Crist, E., Mostafavi, R., Pivnick, E. K., Choudhri, A. F., Narumanchi, T., Castelluccio, V., Walsh, L. E., Garganta, C. & Gastier-Foster, J. M., 1 May 2020, In: American journal of medical genetics. Part A. 182, 5, p. 1201-1208 8 p.Research output: Contribution to journal › Article* › Academic › peer-review
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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
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