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

Publications 1996 2019

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

Jurkute, N., Majander, A., Bowman, R., Votruba, M., Abbs, S., Acheson, J., Lenaers, G., Amati-Bonneau, P., Moosajee, M., Arno, G. & Yu-Wai-Man, P., Mar 2019, In : European Journal of Human Genetics. 27, 3, p. 494-502 9 p.

Research output: Contribution to journalEditorialScientific

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Inflammasomigeeni NLRP3:n mutaatio aiheuttaa periytyvän sarveiskalvotulehduksen

Turunen, J., Wedenoja, J., Repo, P., Järvinen, R-S., Jäntti, J. E., Mörtenhumer, S., Riikonen, A. S., Lehesjoki, A-E., Majander, A. & Kivelä, T., 2018, In : Duodecim. 134, 7, p. 748 1 p.

Research output: Contribution to journalArticleProfessional

Open Access
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Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene

Turunen, J. A., Wedenoja, J., Repo, P., Järvinen, R-S., Jäntti, J. E., Mörtenhumer, S., Riikonen, A. S., Lehesjoki, A-E., Majander, A. & Kivelä, T. T., 2018, In : American Journal of Ophthalmology. p. 41-50 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Leberin perinnöllinen näköhermonsurkastuma - katse kohti hoitoa

Majander, A., 2018, In : Duodecim. 134, 21, p. 2131-2138 8 p.

Research output: Contribution to journalArticleProfessional

Childhood-onset Leber hereditary optic neuropathy

Majander, A., Bowman, R., Poulton, J., Antcliff, R. J., Reddy, M. A., Michaelides, M., Webster, A. R., Chinnery, P. F., Votruba, M., Moore, A. T. & Yu-Wai-Man, P., Nov 2017, In : British Journal of Ophthalmology. 101, 11, p. 1505-1509 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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