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

Publications 2004 2019

Open Access
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Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

Pekkinen, M., Terhal, P. A., Botto, L. D., Henning, P., Mäkitie, R. E., Roschger, P., Jain, A., Kol, M., Kjellberg, M. A., Paschalis, E. P., van Gassen, K., Murray, M., Bayrak-Toydemir, P., Magnusson, M. K., Jans, J., Kausar, M., Carey, J. C., Somerharju, P., Lerner, U. H., Olkkonen, V. M. & 3 othersKlaushofer, K., Holthuis, J. C. M. & Mäkitie, O., 4 Apr 2019, In : JCI INSIGHT. 4, 7, 20 p., 126180.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability

Loid, P., Mäkitie, R., Costantini, A., Viljakainen, H., Pekkinen, M. & Mäkitie, O., Sep 2018, In : American Journal of Medical Genetics. Part A. 176, 9, p. 1972-1975 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Low free 25-hydroxyvitamin D and high vitamin D binding protein and parathyroid hormone in obese Caucasians. A complex association with bone?

Saarnio, E., Pekkinen, M., Itkonen, S. T., Kemi, V., Karp, H., Ivaska, K. K., Risteli, J., Koivula, M-K., Kärkkäinen, M., Mäkitie, O., Sievänen, H. & Lamberg-Allardt, C., 28 Feb 2018, In : PLoS One. 13, 2, 16 p., 0192596.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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CRTAP variants in early-onset osteoporosis and recurrent fractures

Costantini, A., Vuorimies, I., Mäkitie, R., Mayranpaa, M. K., Becker, J., Pekkinen, M., Valta, H., Netzer, C., Kampe, A., Taylan, F., Jiao, H. & Makitie, O., Mar 2017, In : American Journal of Medical Genetics. Part A. 173, 3, p. 806-808 3 p.

Research output: Contribution to journalArticleScientific

Projects 2014 2019

PELI: Genetic determinants and clinical consequences of early-onset severe obesity

Viljakainen, H., Mäkitie, O., Pekkinen, M., Loid, P., Taina, M., Päivi, T. & Lindstrand, A.

01/09/201431/12/2018

Project: Research project