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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Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity
Loid, P., Pekkinen, M., Mustila, T., Tossavainen, P., Viljakainen, H., Lindstrand, A. & Mäkitie, O., 7 Mar 2022, In: Frontiers in Genetics. 13, 7 p., 839349.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early-Onset Osteoporosis Due to SGMS2 Mutations
Mäkitie, R. E., Blouin, S., Valimaki, V-V., Pihlström, S., Määttä, K., Pekkinen, M., Fratzl-Zelman, N., Mäkitie, O. & Hartmann, M. A., Nov 2021, In: JBMR plus. 5, 11, 10 p., 10537.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility
Mäkitie, R. E., Henning, P., Jiu, Y., Kämpe, A., Kogan, K., Costantini, A., Välimäki, V-V., Medina-Gomez, C., Pekkinen, M., Salusky, I. B., Schalin-Jäntti, C., Haanpää, M. K., Rivadeneira, F., Bassett, J. H. D., Williams, G. R., Lerner, U. H., Pereira, R. C., Lappalainen, P. & Mäkitie, O., Jul 2021, In: JBMR plus. 5, 7, 19 p., 10509.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
A new family with epiphyseal chondrodysplasia type Miura
Kenis, V., Melchenko, E., Mazunin, I., Pekkinen, M. & Mäkitie, O., Jan 2021, In: American journal of medical genetics. Part A. 185, 1, p. 112-118 7 p.Research output: Contribution to journal › Article › Scientific › peer-review
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A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report
Mäkitie, R. E., Pekkinen, M., Morisada, N., Kobayashi, D., Yonezawa, Y., Nishimura, G., Ikegawa, S. & Mäkitie, O., Dec 2021, In: Calcified Tissue International. 109, 6, p. 626-632 7 p.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., Mäkitie, O., Pekkinen, M., Loid, P., Taina, M., Päivi, T. & Lindstrand, A.
01/09/2014 → 31/12/2018
Project: Research project
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VIDI: Vitamin D intervention trial in infants
Viljakainen, H., Andersson, S., Mäkitie, O., Helve, O., Holmlund-Suila, E. M., Hauta-alus, H., Rosendahl, J., Enlund-Cerullo, M., Valkama, S., Hytinantti, T., Pekkinen, M., Räikkönen, K., Heinonen, K. & Kajantie, E.
01/01/2014 → 31/12/2019
Project: Research project