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

Year Number of Results
1990 1
1991 3
1992 7
1993 3
1994 7
1995 5
1996 4
1997 5
1998 4
1999 8
2000 9
2001 3
2002 1
2003 5
2004 5
2005 6
2006 5
2007 7
2008 7
2009 2
2010 6
2011 6
2012 5
2013 5
2014 3
2015 3
2016 9
2017 5
2018 4
2019 3
2020 4
2021 4
2022 8
2023 2
2024 5

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152 results

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Page 1
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N. Andresen BS, et al. Am J Hum Genet. 1999 Feb;64(2):479-94. doi: 10.1086/302261. Am J Hum Genet. 1999. PMID: 9973285 Free PMC article.
[Keratin diseases].
Jensen PK, Sørensen CB, Andresen BS, Brandrup F, Veien NK, Buus SK, Gregersen N, Bolund L. Jensen PK, et al. Among authors: andresen bs. Ugeskr Laeger. 2000 Mar 27;162(13):1867-72. Ugeskr Laeger. 2000. PMID: 10765692 Review. Danish.
CRISPR activation to characterize splice-altering variants in easily accessible cells.
Terkelsen T, Mikkelsen NS, Bak EN, Vad-Nielsen J, Blechingberg J, Weiss S, Drue SO, Andersen H, Andresen BS, Bak RO, Jensen UB. Terkelsen T, et al. Among authors: andresen bs. Am J Hum Genet. 2024 Feb 1;111(2):309-322. doi: 10.1016/j.ajhg.2023.12.024. Epub 2024 Jan 24. Am J Hum Genet. 2024. PMID: 38272032 Free PMC article.
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
Spangsberg Petersen US, Dembic M, Martínez-Pizarro A, Richard E, Holm LL, Havelund JF, Doktor TK, Larsen MR, Færgeman NJ, Desviat LR, Andresen BS. Spangsberg Petersen US, et al. Among authors: andresen bs. Mol Ther Nucleic Acids. 2023 Dec 13;35(1):102101. doi: 10.1016/j.omtn.2023.102101. eCollection 2024 Mar 12. Mol Ther Nucleic Acids. 2023. PMID: 38204914 Free PMC article.
Topoisomerase 1 inhibits MYC promoter activity by inducing G-quadruplex formation.
Keller JG, Hymøller KM, Thorsager ME, Hansen NY, Erlandsen JU, Tesauro C, Simonsen AKW, Andersen AB, Vandsø Petersen K, Holm LL, Stougaard M, Andresen BS, Kristensen P, Frøhlich R, Knudsen BR. Keller JG, et al. Among authors: andresen bs. Nucleic Acids Res. 2022 Jun 24;50(11):6332-6342. doi: 10.1093/nar/gkac482. Nucleic Acids Res. 2022. PMID: 35687110 Free PMC article.
Identification of SRSF10 as a regulator of SMN2 ISS-N1.
Frederiksen SB, Holm LL, Larsen MR, Doktor TK, Andersen HS, Hastings ML, Hua Y, Krainer AR, Andresen BS. Frederiksen SB, et al. Among authors: andresen bs. Hum Mutat. 2021 Mar;42(3):246-260. doi: 10.1002/humu.24149. Epub 2020 Dec 16. Hum Mutat. 2021. PMID: 33300159 Free PMC article.
MCAD deficiency in Denmark.
Andresen BS, Lund AM, Hougaard DM, Christensen E, Gahrn B, Christensen M, Bross P, Vested A, Simonsen H, Skogstrand K, Olpin S, Brandt NJ, Skovby F, Nørgaard-Pedersen B, Gregersen N. Andresen BS, et al. Mol Genet Metab. 2012 Jun;106(2):175-88. doi: 10.1016/j.ymgme.2012.03.018. Epub 2012 Apr 4. Mol Genet Metab. 2012. PMID: 22542437
152 results