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Riikka Mäkitie

  • PL 63 (Haartmaninkatu 8)

    00014

    Finland

20152019
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Keywords

  • 3112 Neurosciences

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

Publications 2015 2019

New Insights Into Monogenic Causes of Osteoporosis

Mäkitie, R. E., Costantini, A., Kämpe, A., Alm, J. J. & Mäkitie, O., 25 Feb 2019, In : Frontiers in Endocrinology. 10, 15 p., 70.

Research output: Contribution to journalReview ArticleScientificpeer-review

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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Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling

Mäkitie, R. E., Hackl, M., Niinimäki, R., Kakko, S., Grillari, J. & Mäkitie, O., May 2018, In : Journal of Clinical Endocrinology and Metabolism. 103, 5, p. 1985-1996 12 p.

Research output: Contribution to journalArticleScientificpeer-review

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

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
File