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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1999 | 1 |
2000 | 1 |
2003 | 1 |
2007 | 1 |
2009 | 1 |
2012 | 1 |
2024 | 0 |
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6 results
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Page 1
Paralogous annotation of disease-causing variants in long QT syndrome genes.
Hum Mutat. 2012 Aug;33(8):1188-1191. doi: 10.1002/humu.22114. Epub 2012 Jun 7.
Hum Mutat. 2012.
PMID: 22581653
Free PMC article.
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
Jongbloed RJ, Wilde AA, Geelen JL, Doevendans P, Schaap C, Van Langen I, van Tintelen JP, Cobben JM, Beaufort-Krol GC, Geraedts JP, Smeets HJ.
Jongbloed RJ, et al.
Hum Mutat. 1999;13(4):301-10. doi: 10.1002/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO;2-V.
Hum Mutat. 1999.
PMID: 10220144
Item in Clipboard
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT.
Splawski I, et al.
Circulation. 2000 Sep 5;102(10):1178-85. doi: 10.1161/01.cir.102.10.1178.
Circulation. 2000.
PMID: 10973849
Item in Clipboard
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.
Van Langen IM, Birnie E, Alders M, Jongbloed RJ, Le Marec H, Wilde AA.
Van Langen IM, et al.
J Med Genet. 2003 Feb;40(2):141-5. doi: 10.1136/jmg.40.2.141.
J Med Genet. 2003.
PMID: 12566525
Free PMC article.
No abstract available.
Item in Clipboard
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AA, Ackerman MJ.
Kapa S, et al.
Circulation. 2009 Nov 3;120(18):1752-60. doi: 10.1161/CIRCULATIONAHA.109.863076. Epub 2009 Oct 19.
Circulation. 2009.
PMID: 19841300
Free PMC article.
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Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
Moss AJ, Shimizu W, Wilde AA, Towbin JA, Zareba W, Robinson JL, Qi M, Vincent GM, Ackerman MJ, Kaufman ES, Hofman N, Seth R, Kamakura S, Miyamoto Y, Goldenberg I, Andrews ML, McNitt S.
Moss AJ, et al.
Circulation. 2007 May 15;115(19):2481-9. doi: 10.1161/CIRCULATIONAHA.106.665406. Epub 2007 Apr 30.
Circulation. 2007.
PMID: 17470695
Free PMC article.
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