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

Year Number of Results
1988 2
1990 1
1991 1
1992 1
1993 3
1994 3
1995 3
1996 13
1997 11
1998 10
1999 7
2000 7
2001 18
2002 20
2003 21
2004 24
2005 60
2006 67
2007 72
2008 77
2009 89
2010 87
2011 69
2012 61
2013 45
2014 61
2015 51
2016 47
2017 21
2018 22
2019 19
2020 23
2021 16
2022 15
2023 11
2024 2

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PubMed for id: 2068

914 results

Results by year

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Page 1
TFIIH mutations can impact on translational fidelity of the ribosome.
Khalid F, Phan T, Qiang M, Maity P, Lasser T, Wiese S, Penzo M, Alupei M, Orioli D, Scharffetter-Kochanek K, Iben S. Khalid F, et al. Hum Mol Genet. 2023 Mar 20;32(7):1102-1113. doi: 10.1093/hmg/ddac268. Hum Mol Genet. 2023. PMID: 36308430 Free PMC article.
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
DiGiovanna JJ, Randall G, Edelman A, Allawh R, Xiong M, Tamura D, Khan SG, Rizza ERH, Reynolds JC, Paul SM, Hill SC, Kraemer KH. DiGiovanna JJ, et al. Am J Med Genet A. 2022 Dec;188(12):3448-3462. doi: 10.1002/ajmg.a.62962. Epub 2022 Sep 14. Am J Med Genet A. 2022. PMID: 36103153 Free PMC article.
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.
Agolini E, Botta E, Lodi M, Digilio MC, Rinelli M, Bellacchio E, Alesi V, Nardo T, Zambruno G, Orioli D, Alessi I, Boccuto L, Rossi S, Carai A, Colafati GS, Cacchione A, Dallapiccola B, Novelli A, Mastronuzzi A. Agolini E, et al. Clin Genet. 2021 Jun;99(6):842-848. doi: 10.1111/cge.13957. Epub 2021 Apr 5. Clin Genet. 2021. PMID: 33733458
ERCC2 gene single-nucleotide polymorphism as a prognostic factor for locally advanced head and neck carcinomas after definitive cisplatin-based radiochemotherapy.
Guberina M, Sak A, Pöttgen C, Tinhofer-Keilholz I, Budach V, Balermpas P, Von der Grün J, Rödel CM, Gkika E, Grosu AL, Abdollahi A, Debus J, Belka C, Pigorsch S, Combs SE, Mönnich D, Zips D, De-Colle C, Welz S, Linge A, Lohaus F, Baretton G, Gauler T, Baumann M, Krause M, Schuler M, Bankfalvi A, Höing B, Lang S, Stuschke M. Guberina M, et al. Pharmacogenomics J. 2021 Feb;21(1):37-46. doi: 10.1038/s41397-020-0174-1. Epub 2020 Jun 16. Pharmacogenomics J. 2021. PMID: 32546699 Free PMC article.
914 results