Research outputs

  1. Implementation of deep neural networks to count dopamine neurons in substantia nigra

    Penttinen, A-M., Parkkinen, I., Blom, S., Kopra, J., Andressoo, J-O., Pitkänen, K., Voutilainen, M. H., Saarma, M. & Airavaara, M., Sep 2018, In : European Journal of Neuroscience. 48, 6, p. 2354-2361 8 p.

    Research output: Contribution to journalArticleScientificpeer-review

  2. Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies

    Niestroj, L-M., Du, J., Nothnagel, M., May, P., Palotie, A., Daly, M. J., Nürnberg, P., Blümcke, I. & Lal, D., 20 Oct 2018, In : Epilepsia. 0, 0

    Research output: Contribution to journalArticleScientificpeer-review

  3. Antibacterial Bioactive Glass, S53P4, for Chronic Bone Infections - A Multinational Study

    Lindfors, N., Geurts, J., Drago, L., Arts, J. J., Juutilainen, V., Hyvönen, P., Suda, A. J., Domenico, A., Artiaco, S., Alizadeh, C., Brychcy, A., Bialecki, J. & Romano, C. L., 2017, MODERN APPROACH TO BIOFILM-RELATED ORTHOPAEDIC IMPLANT INFECTIONS: ADVANCES IN MICROBIOLOGY, INFECTIOUS DISEASES AND PUBLIC HEALTH, VOL 5. Drago, L. (ed.). Springer International Publishing AG, p. 81-92 12 p. (Advances in Experimental Medicine and Biology; vol. 971)

    Research output: Chapter in Book/Report/Conference proceedingChapterScientificpeer-review

  4. Expression of Plasma miRNA-221 in Colorectal Carcinoma Patients and its Diagnostic Significance in Comparison with p53 Expression

    Youssef, O., Fawzy, A., Elshimy, R., Almangush, A., Mahmoud, A. M. & Loay, I., 2018, In : Clinical Laboratory. 64, 9, p. 1527-1533 7 p.

    Research output: Contribution to journalArticleScientificpeer-review

  5. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

    Savarese, M. , Torella, A. , Musumeci, O. , Angelini, C. , Astrea, G. , Bello, L. , Bruno, C. , Comi, G. P. , Di Fruscio, G. , Piluso, G. , Di Iorio, G. , Ergoli, M. , Esposito, G. , Fanin, M. , Farina, O. , Fiorillo, C. , Garofalo, A. , Giugliano, T. , Magri, F. , Minetti, C. & 11 others Moggio, M., Passamano, L., Pegoraro, E., Picillo, E., Sampaolo, S., Santorelli, F. M., Semplicini, C., Udd, B., Toscano, A., Politano, L. & Nigro, V., Jul 2018, In : Neuromuscular Disorders. 28, 7, p. 586-591 6 p.

    Research output: Contribution to journalArticleScientificpeer-review

  6. A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair

    Strang-Karlsson, S., Johnson, K., Töpf, A., Xu, L., Lek, M., MacArthur, D. G., Casar-Borota, O., Williams, M., Straub, V. & Wallgren-Pettersson, C., Jul 2018, In : Neuromuscular Disorders. 28, 7, p. 614-618 5 p.

    Research output: Contribution to journalArticleScientificpeer-review

  7. DNA methylation alterations-potential cause of endometriosis pathogenesis or a reflection of tissue heterogeneity?

    Saare, M., Krigul, K. L., Laisk-Podar, T., Ponandai-Srinivasan, S., Rahmioglu, N., Kumar, P. G. L., Zondervan, K., Salumets, A. & Peters, M., Aug 2018, In : Biology of Reproduction. 99, 2, p. 273-282 10 p.

    Research output: Contribution to journalReview ArticleScientificpeer-review

  8. 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017

    LGMD Workshop Study Grp, Aug 2018, In : Neuromuscular Disorders. 28, 8, p. 702-710 9 p.

    Research output: Contribution to journalArticleScientificpeer-review

  9. Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy

    Ylikallio, E., Woldegebriel, R. & Tyynismaa, H., Sep 2018, In : Brain : a journal of neurology. 141, 2 p., 67

    Research output: Contribution to journalLetterScientific

  10. Identifying differentially methylated sites in samples with varying tumor purity

    Häkkinen, A., Alkodsi, A., Facciotto, C., Zhang, K., Kaipio, K., Leppa, S., Carpen, O., Grenman, S., Hynninen, J., Hietanen, S., Lehtonen, R. & Hautaniemi, S., 15 Sep 2018, In : Bioinformatics. 34, 18, p. 3078-3085 8 p.

    Research output: Contribution to journalArticleScientificpeer-review

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