Research output per year
Research output per year
Personal profile
External positions
Co-PI, Administrative leader, Folkhälsan Research Centre, Folkhälsan Institute of Genetics
2012 → …
Fields of Science
- 1184 Genetics, developmental biology, physiology
- human genetics
International and National Collaboration
Publications and projects within past five years.
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A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region
Sagath, L., Lehtokari, V-L., Wallgren-Pettersson, C., Pelin, K. & Kiiski, K., 2022, In: PLoS One. 17, 5, 12 p., 0267793.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region
Sagath, L., Lehtokari, V-L., Pelin, K. & Kiiski, K., May 2022, In: Genes. 13, 5, 13 p., 905.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation
Rocha, M. L., Dittmayer, C., Uruha, A., Korinth, D., Chaoui, R., Schlembach, D., Rossi, R., Pelin, K., Suk, E. K., Schmid, S., Goebel, H. H., Schuelke, M., Stenzel, W. & Englert, B., Mar 2021, In: Neuromuscular Disorders. 31, 3, p. 239-245 7 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin
Sagath, L., Lehtokari, V-L., Välipakka, S., Vihola, A., Gardberg, M., Hackman, P., Pelin, K., Jokela, M., Kiiski, K., Udd, B. & Wallgren-Pettersson, C., Jun 2021, In: Neuromuscular Disorders. 31, 6, p. 539-545 7 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Genetics of the congenital myopathies
Pelin, K., 27 Apr 2021, In: Encyclopedia of life sciences. 2, 2, p. 1-9 9 p.Research output: Contribution to journal › Review Article › peer-review
Projects
- 1 Active
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Nemaline myopathy and other neuromuscular disorders
Wallgren-Pettersson, C., Pelin, K., Lehtokari, V., Hanif, M., Marttila, M., Kiiski, K. & Laitila, J.
01/01/1985 → …
Project: Research project
Activities
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Clinical Genetics (Journal)
Katarina Pelin (Reviewer)
20 Feb 2023Activity: Publication peer-review and editorial work types › Peer review of manuscripts
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BMJ Case Reports (Journal)
Katarina Pelin (Reviewer)
25 Apr 2023Activity: Publication peer-review and editorial work types › Peer review of manuscripts
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Neuromuscular Disorders (Journal)
Katarina Pelin (Reviewer)
5 May 2023Activity: Publication peer-review and editorial work types › Peer review of manuscripts
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Supervision of doctoral dissertation
Katarina Pelin (Co-supervisor)
3 Jun 2022Activity: Examination types › Supervisor or co-supervisor of doctoral thesis
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Journal of Molecular Neuroscience (Journal)
Katarina Pelin (Reviewer)
5 May 2022Activity: Publication peer-review and editorial work types › Peer review of manuscripts