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

Year Number of Results
1981 1
1982 1
1983 3
1984 2
1986 2
1987 1
1988 3
1990 1
1992 1
1993 5
1994 3
1995 5
1996 4
1997 10
1998 3
1999 4
2001 4
2002 1
2003 3
2004 2
2005 3
2010 2
2011 1
2013 2
2014 1
2015 1
2017 1
2018 1
2019 1
2020 4
2021 2
2023 1
2024 1

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76 results

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Page 1
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. Bladen CL, et al. Among authors: lahdetie j. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25604253 Free PMC article.
[Preimplantation diagnostics].
Lähdetie J, Horelli-Kuitunen N. Lähdetie J, et al. Duodecim. 2001;117(22):2257-63. Duodecim. 2001. PMID: 12183958 Review. Finnish. No abstract available.
Epilepsy caused by CDKL5 mutations.
Castrén M, Gaily E, Tengström C, Lähdetie J, Archer H, Ala-Mello S. Castrén M, et al. Among authors: lahdetie j. Eur J Paediatr Neurol. 2011 Jan;15(1):65-9. doi: 10.1016/j.ejpn.2010.04.005. Epub 2010 May 20. Eur J Paediatr Neurol. 2011. PMID: 20493745
Y-chromosomal microdeletions among infertile Finnish men.
Aho M, Härkönen K, Suikkari AM, Juvonen V, Anttila L, Lähdetie J. Aho M, et al. Among authors: lahdetie j. Acta Obstet Gynecol Scand. 2001 Jul;80(7):652-6. Acta Obstet Gynecol Scand. 2001. PMID: 11437724
76 results