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.

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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.

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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.

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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.

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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, Schmid, J. P., Kuhns, D. B., Xu, X., Hauck, F., Al-Herz, W., Wagner, M., Terhal, P. A., Muurinen, M., Barlogis, V., Cruz, P., Danielson, J., Stewart, H., Loid, P., Rading, S., Keren, B., Pfundt, R., Zarember, K. A., Vill, K., Potocki, L., Olivier, K. N., Lesca, G., Faivre, L., Wong, M., Puel, A., Chou, J., Tusseau, M., Moutsopoulos, N. M., Matthews, H. F., Simons, C., Taft, R. J., Soldatos, A., Masle-Farquhar, E., Pittaluga, S., Brink, R., Fink, D. L., Kong, H. H., Kabat, J., Kim, W. S., Bierhals, T., Meguro, K., Hsu, A. P., Gu, J., Stoddard, J., Banos-Pinero, B., Slack, M., Trivellin, G., Mazel, B., Soomann, M., Li, S., Watts, V. J., Stratakis, C. A., Rodriguez-Quevedo, M. F., Bruel, A. L., Lipsanen-Nyman, M., Saultier, P., Jain, R., Lehalle, D., Torres, D., Sullivan, K. E., Barbarot, S., Neu, A., Duffourd, Y., Similuk, M., McWalter, K., Blanc, P., Bézieau, S., Jin, T., Geha, R. S., Casanova, J. L., Mäkitie, O. M., Kubisch, C., Edery, P., Christodoulou, J., Germain, R. N., Goodnow, C. C., Sakmar, T. P., Billadeau, D. D., Küry, S., Katanaev, V. L., Zhang, Y., Lenardo, M. J. & Su, H. C., 20 Sept 2024, In: Science (New York, N.Y.). 385, 6715, 18 p., eadd8947.

Research output: Contribution to journal › Article › Scientific › peer-review