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Helena Valta

  • Finland

20072019
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International and National Collaboration Publications and projects within past five years.

Publications 2007 2019

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

Chang, H. R., Cho, S. Y., Lee, J. H., Lee, E., Seo, J., Lee, H. R., Cavalcanti, D. P., Mäkitie, O., Valta, H., Girisha, K. M., Lee, C., Neethukrishna, K., Bhavani, G. S., Shukla, A., Nampoothiri, S., Phadkei, S. R., Park, M. J., Ikegawa, S., Wang, Z., Higgs, M. R. & 15 othersStewart, G. S., Jung, E., Lee, M-S., Park, J. H., Lee, E. A., Kim, H., Myung, K., Jeon, W., Lee, K., Kim, D., Kim, O-H., Choi, M., Lee, H-W., Kim, Y. & Cho, T-J., 7 Mar 2019, In : American Journal of Human Genetics. 104, 3, p. 439-453 15 p.

Research output: Contribution to journalArticleScientificpeer-review

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”

Costantini, A., Valta, H., Baratang, N. V., Yap, P., Bertola, D. R., Yamamoto, G. L., Kim, C. A., Chen, J., Wierenga, K. J., Fanning, E. A., Escobar, L., McWalter, K., McLaughlin, H., Willaert, R., Begtrup, A., Alm, J. J., Reinhardt, D. P., Mäkitie, O. & Campeau, P. M., 2019, In : Bone. 121, p. 163-171 9 p.

Research output: Contribution to journalArticleScientificpeer-review

A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia

Vakkilainen, S., Mäkitie, R., Klemetti, P., Valta, H., Taskinen, M., Husebye, E. S. & Mäkitie, O., 25 Oct 2018, In : Frontiers in Immunology. 9, 9 p., 2468.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Cinacalcet rectifies hypercalcemia in a patient with familial hypocalciuric hypercalcemia type 2 (FHH2) caused by a germline loss-of-function Gα11 mutation

Gorvin, C. M., Hannan, F. M., Cranston, T., Valta, H., Mäkitie, O., Schalin-Jäntti, C. & Thakker, R. V., Jan 2018, In : Journal of Bone and Mineral Research. 33, 1, p. 32-41 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Open Access
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