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

Publications 2015 2017

Open Access
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ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Anttonen, A-K., Laari, A., Kousi, M., Yang, Y. J., Jääskeläinen, T., Somer, M., Siintola, E., Jakkula, E., Muona, M., Tegelberg, S., Lönnqvist, T., Pihko, H., Valanne, L., Paetau, A., Lun, M. P., Hästbacka, J., Kopra, O., Joensuu, T., Katsanis, N., Lehtinen, M. K. & 2 others, Palvimo, J. J. & Lehesjoki, A-E., May 2017, In : Brain : a journal of neurology. 140, p. 1267-1279 13 p.

Research output: Contribution to journalArticleScientificpeer-review

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Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

Tesi, B., Lagerstedt-Robinson, K., Chiang, S. C. C., Ben Bdira, E., Abboud, M., Belen, B., Devecioglu, O., Fadoo, Z., Yeoh, A. E. J., Erichsen, H. C., Mottonen, M., Akar, H. H., Hästbacka, J., Kaya, Z., Nunes, S., Patiroglu, T., Sabel, M., Saribeyoglu, E. T., Tvedt, T. H., Unal, E. & 6 others, Unal, S., Unuvar, A., Meeths, M., Henter, J-I., Nordenskjold, M. & Bryceson, Y. T., 18 Dec 2015, In : Genome medicine. 7, 13 p., 130.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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