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

Year Number of Results
1985 2
1987 1
1988 2
1991 1
1994 2
1995 10
1996 2
1997 7
1998 1
1999 6
2000 1
2001 8
2002 1
2003 2
2004 3
2005 6
2006 2
2008 2
2009 2
2010 1
2011 4
2012 3
2014 2
2015 4
2016 4
2017 2
2021 1
2024 0

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80 results

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Page 1
HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE. den Dunnen JT, et al. Among authors: taschner pe. Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25. Hum Mutat. 2016. PMID: 26931183
LOVD v.2.0: the next generation in gene variant databases.
Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. Fokkema IF, et al. Among authors: taschner pe. Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22. Hum Mutat. 2011. PMID: 21520333
Mutalyzer 2: next generation HGVS nomenclature checker.
Lefter M, Vis JK, Vermaat M, den Dunnen JT, Taschner PEM, Laros JFJ. Lefter M, et al. Among authors: taschner pem. Bioinformatics. 2021 Sep 29;37(18):2811-2817. doi: 10.1093/bioinformatics/btab051. Bioinformatics. 2021. PMID: 33538839 Free PMC article.
Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.
Leroy B, Ballinger ML, Baran-Marszak F, Bond GL, Braithwaite A, Concin N, Donehower LA, El-Deiry WS, Fenaux P, Gaidano G, Langerød A, Hellstrom-Lindberg E, Iggo R, Lehmann-Che J, Mai PL, Malkin D, Moll UM, Myers JN, Nichols KE, Pospisilova S, Ashton-Prolla P, Rossi D, Savage SA, Strong LC, Tonin PN, Zeillinger R, Zenz T, Fraumeni JF Jr, Taschner PE, Hainaut P, Soussi T. Leroy B, et al. Among authors: taschner pe. Cancer Res. 2017 Mar 15;77(6):1250-1260. doi: 10.1158/0008-5472.CAN-16-2179. Cancer Res. 2017. PMID: 28254861 Free PMC article. Review.
New mutations in the neuronal ceroid lipofuscinosis genes.
Mole SE, Zhong NA, Sarpong A, Logan WP, Hofmann S, Yi W, Franken PF, van Diggelen OP, Breuning MH, Moroziewicz D, Ju W, Salonen T, Holmberg V, Järvelä I, Taschner PE. Mole SE, et al. Among authors: taschner pe. Eur J Paediatr Neurol. 2001;5 Suppl A:7-10. doi: 10.1053/ejpn.2000.0427. Eur J Paediatr Neurol. 2001. PMID: 11589012 Review.
Caenorhabditis elegans as a model for lysosomal storage disorders.
de Voer G, Peters D, Taschner PE. de Voer G, et al. Among authors: taschner pe. Biochim Biophys Acta. 2008 Jul-Aug;1782(7-8):433-46. doi: 10.1016/j.bbadis.2008.04.003. Epub 2008 May 1. Biochim Biophys Acta. 2008. PMID: 18501720 Free article. Review.
80 results