20072019

Research output per year

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

Publications

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 others, Stewart, 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

Open Access
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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., Apr 2019, In : Bone. 121, p. 163-171 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux

ul Ain, N., Iqbal, M., Valta, H., Emerling, C. A., Ahmed, S., Makitie, O. & Naz, S., Sep 2019, In : European Journal of Medical Genetics. 62, 9, 7 p., 103554.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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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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