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Items: 6

1.

Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model.

Välipakka S, Savarese M, Sagath L, Arumilli M, Giugliano T, Udd B, Hackman P.

J Mol Diagn. 2020 Jan;22(1):40-49. doi: 10.1016/j.jmoldx.2019.08.009. Epub 2019 Nov 13.

PMID:
31733349
2.

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.

Jokela M, Tasca G, Vihola A, Mercuri E, Jonson PH, Lehtinen S, Välipakka S, Pane M, Donati M, Johari M, Savarese M, Huovinen S, Isohanni P, Palmio J, Hartikainen P, Udd B.

Neurology. 2019 Apr 2;92(14):e1600-e1609. doi: 10.1212/WNL.0000000000007246. Epub 2019 Mar 6.

PMID:
30842289
3.

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

Sainio MT, Välipakka S, Rinaldi B, Lapatto H, Paetau A, Ojanen S, Brilhante V, Jokela M, Huovinen S, Auranen M, Palmio J, Friant S, Ylikallio E, Udd B, Tyynismaa H.

J Neurol. 2019 Feb;266(2):353-360. doi: 10.1007/s00415-018-9137-8. Epub 2018 Dec 4.

4.

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.

Neurol Genet. 2017 Dec 11;3(6):e204. doi: 10.1212/NXG.0000000000000204. eCollection 2017 Dec.

5.

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.

Sagath L, Lehtokari VL, Välipakka S, Udd B, Wallgren-Pettersson C, Pelin K, Kiiski K.

J Neuromuscul Dis. 2018;5(3):307-314. doi: 10.3233/JND-170298.

6.

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

Kämpjärvi K, Mäkinen N, Mehine M, Välipakka S, Uimari O, Pitkänen E, Heinonen HR, Heikkinen T, Tolvanen J, Ahtikoski A, Frizzell N, Sarvilinna N, Sjöberg J, Bützow R, Aaltonen LA, Vahteristo P.

Br J Cancer. 2016 Jun 14;114(12):1405-11. doi: 10.1038/bjc.2016.130. Epub 2016 May 17.

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