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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1992 1
1993 1
1994 1
1995 1
1996 1
1997 4
1998 2
1999 2
2000 1
2001 2
2003 2
2005 2
2006 1
2007 3
2008 1
2009 1
2010 2
2011 1
2012 2
2013 1
2014 3
2017 3
2018 6
2019 3
2020 2
2021 3
2022 1
2023 1
2024 1

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53 results

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Page 1
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: marttila m. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
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: marttila m. Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693. Hum Mutat. 2014. PMID: 25205138 Free PMC article.
Titin copy number variations associated with dominant inherited phenotypes.
Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M. Perrin A, et al. Among authors: marttila m. J Med Genet. 2024 Mar 21;61(4):369-377. doi: 10.1136/jmg-2023-109473. J Med Genet. 2024. PMID: 37935568
[Encephalopathies due to vitamin deficiency].
Hillbom M, Marttila M. Hillbom M, et al. Among authors: marttila m. Duodecim. 2010;126(18):2132-8. Duodecim. 2010. PMID: 21072960 Review. Finnish.
A Web Portal for Communicating Polygenic Risk Score Results for Health Care Use-The P5 Study.
Marjonen H, Marttila M, Paajanen T, Vornanen M, Brunfeldt M, Joensuu A, Halmesvaara O, Aro K, Alanne-Kinnunen M, Jousilahti P, Borodulin K, Koskinen S, Tuomi T, Ilanne-Parikka P, Lindström J, Laine MK, Auro K, Kääriäinen H, Perola M, Kristiansson K. Marjonen H, et al. Among authors: marttila m. Front Genet. 2021 Oct 29;12:763159. doi: 10.3389/fgene.2021.763159. eCollection 2021. Front Genet. 2021. PMID: 34777479 Free PMC article. Review.
DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies.
Packer RJ, Williams AT, Hennah W, Eisenberg MT, Shrine N, Fawcett KA, Pearson W, Guyatt AL, Edris A, Hollox EJ, Marttila M, Rao BS, Bratty JR, Wain LV, Dudbridge F, Tobin MD. Packer RJ, et al. Among authors: marttila m. Bioinformatics. 2023 Apr 3;39(4):btad073. doi: 10.1093/bioinformatics/btad073. Bioinformatics. 2023. PMID: 36744935 Free PMC article.
Molecular wipes: application to epidemic keratoconjuctivitis.
Aplander K, Marttila M, Manner S, Arnberg N, Sterner O, Ellervik U. Aplander K, et al. Among authors: marttila m. J Med Chem. 2011 Oct 13;54(19):6670-5. doi: 10.1021/jm200545m. Epub 2011 Aug 31. J Med Chem. 2011. PMID: 21838327
Adenovirus 11p downregulates CD46 early in infection.
Gustafsson DJ, Andersson EK, Hu YL, Marttila M, Lindman K, Strand M, Wang L, Mei YF. Gustafsson DJ, et al. Among authors: marttila m. Virology. 2010 Sep 30;405(2):474-82. doi: 10.1016/j.virol.2010.06.026. Epub 2010 Jul 16. Virology. 2010. PMID: 20638094 Free article.
53 results