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Year Number of Results
2012 1
2014 1
2015 3
2016 1
2017 1
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2019 1
2021 1
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2023 2
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14 results

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Page 1
Mutation update: the spectra of nebulin variants and associated myopathies.
Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: kiiski k. Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693. Hum Mutat. 2014. PMID: 25205138 Free PMC article.
Prenatal diagnosis of 17p13.1p13.3 duplication.
Kiiski K, Roovere T, Zordania R, von Koskull H, Horelli-Kuitunen N. Kiiski K, et al. Case Rep Med. 2012;2012:840538. doi: 10.1155/2012/840538. Epub 2012 Oct 17. Case Rep Med. 2012. PMID: 23118768 Free PMC article.
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, Shohet A, Orenstein N, Krcho P, Bohuš P, Huovinen S, Udd B, Pelin K, Laing NG, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: kiiski k. Neuromuscul Disord. 2024 Jan;34:32-40. doi: 10.1016/j.nmd.2023.11.009. Epub 2023 Nov 30. Neuromuscul Disord. 2024. PMID: 38142473 Free article.
Copy number variation analysis increases the diagnostic yield in muscle diseases.
Välipakka S, Savarese M, Johari M, Sagath L, Arumilli M, Kiiski K, Sáenz A, de Munain AL, Cobo AM, Pelin K, Udd B, Hackman P. Välipakka S, et al. Among authors: kiiski k. Neurol Genet. 2017 Dec 11;3(6):e204. doi: 10.1212/NXG.0000000000000204. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 30238059 Free PMC article.
14 results