Availability and use of rapid diagnostic tests for the management of acute childhood infections in Europe: A cross-sectional survey of paediatricians

Dewez, J. E., Pembrey, L., Nijman, R. G., del Torso, S., Grossman, Z., Hadjipanayis, A., Van Esso, D., Lim, E., Emonts, M., Burns, J., Gras-LeGuen, C., Kohlfuerst, D., Dornbusch, H. J., Brengel-Pesce, K., Mallet, F., von Both, U., Tsolia, M., Eleftheriou, I., Zavadska, D., de Groot, R., & 34 othersvan der Flier, M., Moll, H., Hagedoorn, N., Borensztajn, D., Oostenbrink, R., Kuijpers, T., Pokorn, M., Vincek, K., Martinon-Torres, F., Rivero, I., Agyeman, P., Carrol, E. D., Paulus, S., Cunnington, A., Herberg, J., Levin, M., Mujkic, A., Geitmann, K., Da Dalt, L., Syridou, G., Valiulis, A., Lapatto, R., Altorjai, P., Torpiano, P., Størdal, K., Illy, K., Mazur, A., Spreitzer, M. V., Rios, J., Wyder, C., Romankevych, I., Basmaci, R., Ibanez-Mico, S. & Yeung, S., 20 Dec 2022, In: PLoS One. 17, 12, 22 p., e0275336.

Research output: Contribution to journal › Article › Scientific › peer-review

CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy

Maldonado, R., Jalil, S., Keskinen, T., Nieminen, A. I., Hyvönen, M. E., Lapatto, R. & Wartiovaara, K., Jun 2022, In: Molecular Genetics and Metabolism Reports. 31, 6 p., 100863.

Research output: Contribution to journal › Article › Scientific › peer-review

Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients

Levtchenko, E., Servais, A., Hulton, S. A., Ariceta, G., Emma, F., Game, D. S., Lange, K., Lapatto, R., Liang, H., Sberro-Soussan, R., Topaloglu, R., Das, A. M., Webb, N. J. A. & Wanner, C., 22 Aug 2022, In: Clinical kidney journal. 15, 9, p. 1675-1684 10 p.

Research output: Contribution to journal › Review Article › peer-review

The Finnish genetic heritage in 2022 - from diagnosis to translational research

Uusimaa, J., Kettunen, J., Varilo, T., Järvelä, I., Kallijärvi, J., Kääriäinen, H., Laine, M., Lapatto, R., Myllynen, P., Niinikoski, H., Rahikkala, E., Suomalainen, A., Tikkanen, R., Tyynismaa, H., Vieira, P., Zarybnicky, T., Sipilä, P., Kuure, S. & Hinttala, R., 1 Oct 2022, In: Disease Models & Mechanisms. 15, 10, 18 p., dmm049490.

Research output: Contribution to journal › Review Article › peer-review

An eHealth Framework for Managing Pediatric Growth Disorders and Growth Hormone Therapy

Dimitri, P., Fernandez-Luque, L., Banerjee, I., Bergada, I., Calliari, L. E., Dahlgren, J., de Arriba, A., Lapatto, R., Reinehr, T., Senniappan, S., Thomas-Teinturier, C., Tsai, M-C., Zaini, A. A., Bagha, M. & Koledova, E., 20 May 2021, In: Journal of Medical Internet Research. 23, 5, 13 p., 27446.

Research output: Contribution to journal › Article › Scientific › peer-review