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

Year Number of Results
1989 4
1992 1
1995 2
1999 2
2001 1
2002 1
2003 4
2004 1
2005 3
2006 3
2007 1
2008 1
2009 1
2010 3
2011 2
2012 4
2013 3
2014 1
2015 4
2016 5
2017 3
2018 3
2019 2
2020 1
2022 0
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54 results
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Page 1
Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].
Koehler U, Pabst B, Pober B, Kozel B. Koehler U, et al. Among authors: pabst b. Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.28. Epub 2014 Feb 26. Eur J Hum Genet. 2014. PMID: 24569604 Free PMC article. No abstract available.
Mechanistic Insights into the Chaperoning of Human Lysosomal-Galactosidase Activity: Highly Functionalized Aminocyclopentanes and C-5a-Substituted Derivatives of 4-epi-Isofagomine.
Weber P, Thonhofer M, Averill S, Davies GJ, Santana AG, Müller P, Nasseri SA, Offen WA, Pabst BM, Paschke E, Schalli M, Torvisco A, Tschernutter M, Tysoe C, Windischhofer W, Withers SG, Wolfsgruber A, Wrodnigg TM, Stütz AE. Weber P, et al. Among authors: pabst bm. Molecules. 2020 Sep 3;25(17):4025. doi: 10.3390/molecules25174025. Molecules. 2020. PMID: 32899288 Free PMC article.
A new type of pharmacological chaperone for GM1-gangliosidosis related human lysosomal β-galactosidase: N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols.
Schalli M, Weber P, Tysoe C, Pabst BM, Thonhofer M, Paschke E, Stütz AE, Tschernutter M, Windischhofer W, Withers SG. Schalli M, et al. Among authors: pabst bm. Bioorg Med Chem Lett. 2017 Aug 1;27(15):3431-3435. doi: 10.1016/j.bmcl.2017.05.086. Epub 2017 May 30. Bioorg Med Chem Lett. 2017. PMID: 28600215
54 results