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Johanna Känsäkoski

20142020

Research output per year

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International and National Collaboration Publications and projects within past five years.

Publications

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism

Hietamäki, J., Gregory, L. C., Ayoub, S., Iivonen, A-P., Vaaralahti, K., Liu, X., Brandstack, N., Buckton, A. J., Laine, T., Känsäkoski, J., Hero, M., Miettinen, P. J., Varjosalo, M., Wakeling, E., Dattani, M. T. & Raivio, T., 1 Jun 2020, In : Journal of Clinical Endocrinology and Metabolism. 105, 6, p. 1748-1758 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

Messina, A., Pulli, K., Santini, S., Acierno, J., Kansakoski, J., Cassatella, D., Xu, C., Casoni, F., Malone, S. A., Ternier, G., Conte, D., Sidis, Y., Tommiska, J., Vaaralahti, K., Dwyer, A., Gothilf, Y., Merlo, G. R., Santoni, F., Niederlander, N. J., Giacobini, P. & 2 others, Raivio, T. & Pitteloud, N., 2 Jan 2020, In : American Journal of Human Genetics. 106, 1, p. 58-70 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients

Iivonen, A-P., Känsäkoski, J., Vaaralahti, K. & Raivio, T., May 2019, In : Endocrine Connections. 8, 5, p. 506-509 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome

Känsäkoski, J., Vaaralahti, K. & Raivio, T., Feb 2018, In : Human Reproduction. 33, 2, p. 328-330 3 p.

Research output: Contribution to journalArticleScientificpeer-review