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 andravan 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, I: PLoS One. 17, 12, 22 s., e0275336.

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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., juni 2022, I: Molecular Genetics and Metabolism Reports. 31, 6 s., 100863.

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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, I: Clinical kidney journal. 15, 9, s. 1675-1684 10 s.

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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 okt. 2022, I: Disease Models & Mechanisms. 15, 10, 18 s., dmm049490.

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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 maj 2021, I: Journal of Medical Internet Research. 23, 5, 13 s., 27446.

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