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

Year Number of Results
1975 1
1993 1
1995 1
1999 1
2002 1
2004 4
2005 2
2011 2
2012 1
2013 2
2014 1
2015 3
2017 3
2018 2
2019 4
2020 8
2021 5
2022 6
2024 1

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PubMed for id: 10195

44 results

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Page 1
ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.
Bian Y, Qiao C, Zheng S, Qiu H, Li H, Zhang Z, Yin S, Jiang H, Li-Ling J, Liu C, Lyu Y. Bian Y, et al. J Hum Genet. 2020 Dec;65(12):1129-1134. doi: 10.1038/s10038-020-0798-7. Epub 2020 Jul 12. J Hum Genet. 2020. PMID: 32655146 Free PMC article.
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter AM, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann KC, Hoffmann GF, Sinning I, Dupré T, Vuillaumier-Barrot S, Barrey C, Denecke J, Kölfen W, Düker G, Ganschow R, Lentze MJ, Moore S, Seta N, Ziegler A, Thiel C. Himmelreich N, et al. Hum Mutat. 2019 Jul;40(7):938-951. doi: 10.1002/humu.23764. Epub 2019 May 8. Hum Mutat. 2019. PMID: 31067009 Review.
44 results