A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma

Brandt, E., Harjama, L., Elomaa, O., Saarela, J., Donner, K., Lappalainen, K., Kivirikko, S., Ranki, A., Kere, J., Kettunen, K. & Hannula-Jouppi, K., feb. 2024, I: Journal of the European Academy of Dermatology and Venereology. 38, 2, s. 413-418 6 s.

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Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant

PID Team Belarus, Sakovich, I. S., Haapaniemi, E., Saarela, J. & Sharapova, S. O., jan. 2024, I: Journal of Clinical Immunology. 44, 1, 4 s., 9.

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Early-Onset Common Variable Immunodeficiency in a Patient with Heterozygous Variants in Interferon Response-Associated Genes TRAF3 and IRF4

Le, K. M., Mamia, N., Kaustio, M., Keskitalo, S., Kettunen, K., Kere, J., Varjosalo, M., Seppänen, M., Martelius, T., Saarela, J. & Grönholm, J., maj 2024, I: Clinical Immunology. 262, 3 s., 109991.

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Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield

Lehtonen, J., Sulonen, A-M., Almusa, H., Lehtokari, V-L., Johari, M., Palva, A., Hakonen, A. H., Wartiovaara, K., Lehesjoki, A-E., Udd, B., Wallgren-Pettersson, C., Pelin, K., Savarese, M. & Saarela, J., dec. 2024, I: Scientific Reports. 14, 1, 4306.

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Meeting Summary of The NYO3 5th NO-Age/AD Meeting and the 1st Norway-UK Joint Meeting on Aging and Dementia: Recent Progress on the Mechanisms and Interventional Strategies

Wang, H. L., Siow, R., Schmauck-Medina, T., Zhang, J., Sandset, P. M., Filshie, C., Lund, Ø., Partridge, L., Bergersen, L. H., Juel Rasmussen, L., Palikaras, K., Sotiropoulos, I., Storm-Mathisen, J., Rubinsztein, D. C., Spillantini, M. G., De Zeeuw, C. I., Watne, L. O., Vyhnalek, M., Veverova, K., Liang, K. X., & 18 andraTavernarakis, N., Bohr, V. A., Yokote, K., Saarela, J., Nilsen, H., Gonos, E. S., Scheibye-Knudsen, M., Chen, G., Kato, H., Selbæk, G., Fladby, T., Nilsson, P., Simonsen, A., Aarsland, D., Lautrup, S., Ottersen, O. P., Cox, L. S. & Fang, E. F., 1 apr. 2024, I: The journals of gerontology. Series A, Biological sciences and medical sciences. 79, 4

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