Personal profile
Fields of Science
- 3123 Gynaecology and paediatrics
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Rare gene variants and weight loss at 10 years after sleeve gastrectomy and gastric bypass - a randomized clinical trial
Loid, P., Grönroos, S., Hurme, S., Salminen, P. & Mäkitie, O., Jun 2025, In: Surgery for Obesity and Related Diseases. 21, 6, p. 628-636 9 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families
Loid, P., Wang, F., Lennartsson, O., Muurinen, M., Costantini, A., Vats, S., Lodefalk, M., Nilsson, O. & Mäkitie, O., Jul 2025, In: Journal of Medical Genetics. 62, 7, p. 436-440 5 p., e110533.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Short Stature and Response to Growth Hormone Treatment in CUL3-Related Neurodevelopmental Disorder
Loid, P., Närhi, A., Hussain, S., Muurinen, M. & Mäkitie, O., 5 Aug 2025, In: Hormone research in paediatrics. 7 p.Research output: Contribution to journal › Article › Scientific › peer-review
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A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome
Ahmad, S., Muurinen, M., Loid, P., Ali, M. Z., Muzammal, M., Fatima, S., Khan, J., Khan, M. A. & Mäkitie, O., Sept 2024, In: Bone Reports. 22, 9 p., 101789.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Germline mutations in a G protein identify signaling cross-talk in T cells
Ham, H., Jing, H., Lamborn, I. T., Kober, M. M., Koval, A., Berchiche, Y. A., Anderson, D. E., Druey, K. M., Mandl, J. N., Isidor, B., Ferreira, C. R., Freeman, A. F., Ganesan, S., Karsak, M., Mustillo, P. J., Teo, J., Zolkipli-Cunningham, Z., Chatron, N., Lecoquierre, F. & Oler, A. J. & 82 others, , 20 Sept 2024, In: Science (New York, N.Y.). 385, 6715, 18 p., eadd8947.Research output: Contribution to journal › Article › Scientific › peer-review