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

Year Number of Results
2003 1
2006 2
2007 2
2008 5
2009 5
2010 6
2011 6
2012 7
2013 11
2014 4
2015 4
2016 3
2017 6
2018 7
2019 7
2020 5
2021 13
2022 9
2023 4
2024 1

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91 results

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Page 1
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review.
Wang L, Mizumoto S, Zhang R, Zhang Y, Liu Y, Cheng W, Li X, Dan M, Zhang C, Gao X, Wang J, Han J, Jiao L, Wang Y, Jin Q, Yang L, Li C, Li S, Zhu J, Jiang H, Nishimura G, Yamada T, Yamada S, Cai N, Qiang R, Guo L. Wang L, et al. Among authors: mizumoto s. J Hum Genet. 2024 Apr 2. doi: 10.1038/s10038-024-01248-3. Online ahead of print. J Hum Genet. 2024. PMID: 38565611
Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient.
Minatogawa M, Hirose T, Mizumoto S, Yamaguchi T, Nagae C, Taki M, Yamada S, Watanabe T, Kosho T. Minatogawa M, et al. Among authors: mizumoto s. Hum Mutat. 2022 Dec;43(12):1829-1836. doi: 10.1002/humu.24437. Epub 2022 Jul 23. Hum Mutat. 2022. PMID: 35842784
91 results