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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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Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II
Storoni, S., Celli, L., Breur, M., Micha, D., Verdonk, S. J. E., Maugeri, A., van den Aardweg, J. G., Riminucci, M., Eekhoff, E. M. W. & Bugiani, M., 1 Jul 2023, In: Physiological reports. 11, 13, p. e15737 e15737.Research output: Contribution to journal › Article › Academic › peer-review
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