Research output per year
Research output per year
Personal profile
Fields of Science
- 1184 Genetics, developmental biology, physiology
- human genetics
International and National Collaboration
Publications and projects within past five years.
-
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
-
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 › Scientific › peer-review
-
Nebulin: Size matters for optimal muscle function
Pelin, K., 1 Mar 2021, In: Journal of General Physiology. 153, 3, 3 p., 202012848.Research output: Contribution to journal › Editorial › Scientific
Open AccessFile
Projects
- 1 Active
-
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
-
Journal of Molecular Neuroscience (Journal)
Katarina Pelin (Reviewer)
5 May 2022Activity: Publication peer-review and editorial work types › Peer review of manuscripts
-
Supervision of doctoral dissertation
Katarina Pelin (Co-supervisor)
3 Jun 2022Activity: Examination types › Supervisor or co-supervisor of doctoral thesis
-
Science (Journal)
Katarina Pelin (Reviewer)
3 Dec 2021Activity: Publication peer-review and editorial work types › Peer review of manuscripts
-
Clinical Genetics (Journal)
Katarina Pelin (Reviewer)
2 Feb 2021Activity: Publication peer-review and editorial work types › Peer review of manuscripts
-
Pre-examiner of doctoral thesis
Katarina Pelin (Pre-examiner)
1 Jan 2021 → 21 Jan 2021Activity: Examination types › Pre-examiner of doctoral thesis