Research output per year
Research output per year
International and National Collaboration
Publications and projects within past five years.
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A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant
Mäkitie, R. E., Toiviainen-Salo, S., Kaitila, I. & Mäkitie, O., 3 Mar 2022, In: Frontiers in Endocrinology. 13, 11 p., 845889.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case
Narhi, A., Fernandes, A., Toiviainen-Salo, S., Harris, J., McInerney-Leo, A., Lazarus, S., Avela, K. & Duncan, E., Aug 2021, In: American Journal of Medical Genetics. Part A. 185, 8, p. 2477-2481 5 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study
Vakkilainen, S., Klemetti, P., Martelius, T., Seppänen, M. J. R., Mäkitie, O. & Toiviainen-Salo, S., Jul 2021, In: Journal of Clinical Immunology. 41, 5, p. 1064-1071 8 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Iron overload after allogeneic stem cell transplantation in children with acute lymphoblastic leukemia
Salmi, A., Holmström, M., Toiviainen-Salo, S., Kanerva, J. & Taskinen, M., Dec 2020, In: Pediatric Transplantation. 24, 8, 8 p., 13846.Research output: Contribution to journal › Article › Scientific › peer-review
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Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency
Tuovinen, E. A., Grönholm, J., Öhman, T., Pöysti, S., Toivonen, R., Kreutzman, A., Heiskanen, K., Trotta, L., Toiviainen-Salo, S., Routes, J. M., Verbsky, J., Mustjoki, S., Saarela, J., Kere, J., Varjosalo, M., Hänninen, A. & Seppänen, M. R. J., Apr 2020, In: Journal of Clinical Immunology. 40, 3, p. 503-514 12 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile