Amsterdam Cardiovascular Sciences
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Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
van den Bersselaar, L. M., Verhagen, J. M. A., Bekkers, J. A., Kempers, M., Houweling, A. C., Baars, M., Overwater, E., Hilhorst-Hofstee, Y., Barge-Schaapveld, D. Q. C. M., Rompen, E., Krapels, I. P. C., Dulfer, E., Wessels, M. W., Loeys, B. L., Verhagen, H. J. M., Maugeri, A., Roos-Hesselink, J. W., Brüggenwirth, H. T. & van de Laar, I. M. B. H., 11 Dec 2023, (E-pub ahead of print) In: Genetics in medicine. p. 101024Research output: Contribution to journal › Article › Academic › peer-review
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Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports
Storoni, S., Celli, L., Zhytnik, L., Maasalu, K., Märtson, A., Kõks, S., Khmyzov, S., Pashenko, A., Maugeri, A., Zambrano, A., Celli, M., Eekhoff, E. M. W. & Micha, D., 1 Nov 2023, In: European journal of medical genetics. 66, 11, 104857.Research output: Contribution to journal › Article › Academic › peer-review
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Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1
Verdonk, S. J. E., Storoni, S., Zhytnik, L., Zhong, W., Pals, G., van Royen, B. J., Elting, M. W., Maugeri, A., Eekhoff, E. M. W. & Micha, D., Aug 2023, In: Calcified tissue international. 113, 2, p. 186-194 9 p.Research output: Contribution to journal › Article › Academic › peer-review
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