Research output per year
Research output per year
Personal profile
Fields of Science
- 3111 Biomedicine
International and National Collaboration
Publications and projects within past five years.
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A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family
Koponen, L., Pekkinen, M., Legebeke, J., Muurinen, M., Rusanen, S., Hussain, S., Wang, F., Nevalainen, P. & Mäkitie, O., 27 Jan 2025, In: JBMR plus. 9, 2, 9 p., ziae169.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
A de novo PRPF8 Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure
Koponen, L., Salonen, P., Rusanen, S., Mäyränpää, M. K., Pekkinen, M. & Mäkitie, O., 2024, In: Hormone research in paediatrics. 11 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
SGMS2 in primary osteoporosis with facial nerve palsy
Pihlström, S., Richardt, S., Määttä, K., Pekkinen, M., Olkkonen, V. M., Mäkitie, O. & Mäkitie, R. E., 11 Oct 2023, In: Frontiers in Endocrinology. 14, 15 p., 1224318.Research output: Contribution to journal › Review Article › peer-review
Open AccessFile -
Variation in the fibroblast growth factor 23 (FGF23) gene associates with serum FGF23 and bone strength in infants
Enlund-Cerullo, M., Holmlund-Suila, E., Valkama, S., Hauta-alus, H., Rosendahl, J., Andersson, S., Pekkinen, M. & Mäkitie, O., 22 May 2023, In: Frontiers in Genetics. 14, 18 p., 1192368.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
A multi-omics study to characterize the transdifferentiation of human dermal fibroblasts to osteoblast-like cells
Pihlström, S., Määttä, K., Öhman, T., Mäkitie, R. E., Aronen, M., Varjosalo, M., Mäkitie, O. & Pekkinen, M., 17 Nov 2022, In: Frontiers in Molecular Biosciences. 9, 27 p., 1032026.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile
Projects
- 2 Finished
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PELI: Genetic determinants and clinical consequences of early-onset severe obesity
Viljakainen, H. (Project manager), Mäkitie, O. (Participant), Pekkinen, M. (Participant), Loid, P. (Participant), Taina, M. (Participant), Päivi, T. (Participant) & Lindstrand, A. (Participant)
01/09/2014 → 31/12/2018
Project: Research project
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VIDI: Vitamin D intervention trial in infants
Viljakainen, H. (Participant), Andersson, S. (Project manager), Mäkitie, O. (Project manager), Helve, O. (Participant), Holmlund-Suila, E. M. (Participant), Hauta-alus, H. (Participant), Rosendahl, J. (Participant), Enlund-Cerullo, M. (Participant), Valkama, S. (Participant), Hytinantti, T. (Participant), Pekkinen, M. (Participant), Räikkönen, K. (Participant), Heinonen, K. (Participant) & Kajantie, E. (Participant)
01/01/2014 → 31/12/2019
Project: Research project