• Finland

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

Projects

Publications

Anti-Müllerian hormone and letrozole levels in boys with constitutional delay of growth and puberty treated with letrozole or testosterone

Kohva, E., Varimo, T., Huopio, H., Tenhola, S., Voutilainen, R., Toppari, J., Miettinen, P. J., Vaaralahti, K., Viinamäki, J., Backman, J. T., Hero, M. & Raivio, T., Feb 2020, In : Human Reproduction. 35, 2, p. 257-264 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

Nevanlinna, V., Konovalova, S., Ceulemans, B., Muona, M., Laari, A., Hilander, T., Gorski, K., Valanne, L., Anttonen, A-K., Tyynismaa, H., Carolina, C. & Anna-Elina, L., Mar 2020, In : European Journal of Medical Genetics. 63, 3, 7 p., 103766.

Research output: Contribution to journalArticleScientificpeer-review

Attitudes towards genetic testing and information: does parenthood shape the views?

Saastamoinen, A., Hyttinen, V., Kortelainen, M., Aaltio, J., Auranen, M., Ylikallio, E., Lönnqvist, T., Sainio, M., Suomalainen, A., Tyynismaa, H. & Isohanni, P., 4 Apr 2020, In : Journal of Community Genetics. 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism

Männistö, J. M. E., Maria, M., Raivo, J., Kuulasmaa, T., Otonkoski, T., Huopio, H. & Laakso, M., Apr 2020, In : Journal of Clinical Endocrinology and Metabolism. 105, 4, 9 p., 271.

Research output: Contribution to journalArticleScientificpeer-review

Deep Learning Algorithms for Corneal Amyloid Deposition Quantitation in Familial Amyloidosis

Kessel, K., Mattila, J., Linder, N., Kivela, T. & Lundin, J., Jan 2020, In : Ocular oncology and pathology. 6, 1, p. 58-65 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Activities

  • 2 Peer review of manuscripts
  • 1 Academic visit to other institution

Molecular Genetics and Metabolism Reports (Journal)

Emil Ylikallio (Reviewer)
Mar 2020

Activity: Publication peer-review and editorial work typesPeer review of manuscripts

BMJ Case Reports (Journal)

Emil Ylikallio (Reviewer)
May 2019

Activity: Publication peer-review and editorial work typesPeer review of manuscripts

King's College London

Rosa Woldegebriel (Visiting researcher)
20182019

Activity: Visiting an external institution typesAcademic visit to other institution