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

Year Number of Results
2004 1
2006 1
2007 2
2008 2
2009 2
2010 1
2011 2
2012 2
2013 1
2016 3
2017 2
2018 4
2019 1
2020 3
2021 3
2022 3
2023 3
2024 2

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29 results

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Page 1
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Zanetti A, et al. Among authors: pollard l. Hum Mutat. 2021 Nov;42(11):1384-1398. doi: 10.1002/humu.24270. Epub 2021 Aug 23. Hum Mutat. 2021. PMID: 34387910 Free PMC article. Review.
Base editing corrects the common Salla disease SLC17A5 c.115C>T variant.
Harb JF, Christensen CL, Kan SH, Rha AK, Andrade-Heckman P, Pollard L, Steet R, Huang JY, Wang RY. Harb JF, et al. Among authors: pollard l. Mol Ther Nucleic Acids. 2023 Aug 26;34:102022. doi: 10.1016/j.omtn.2023.08.024. eCollection 2023 Dec 12. Mol Ther Nucleic Acids. 2023. PMID: 37727271 Free PMC article.
29 results