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

Year Number of Results
2002 2
2004 3
2005 4
2006 4
2007 7
2008 4
2009 4
2010 3
2011 11
2012 10
2013 10
2014 14
2015 12
2016 15
2017 28
2018 23
2019 24
2020 25
2021 14
2022 22
2023 24
2024 18

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251 results

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Page 1
Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.
Hu X, Li N, Xu Y, Li G, Yu T, Yao RE, Fu L, Wang J, Yin L, Yin Y, Wang Y, Jin X, Wang X, Wang J, Shen Y. Hu X, et al. Among authors: wang x. Genet Med. 2018 Sep;20(9):1045-1053. doi: 10.1038/gim.2017.195. Epub 2017 Nov 2. Genet Med. 2018. PMID: 29095814 Free article.
Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.
Zhang Q, Huang Y, Gao S, Ding Y, Zhang H, Chang G, Wang X. Zhang Q, et al. Among authors: wang x. Int J Mol Sci. 2024 Aug 3;25(15):8484. doi: 10.3390/ijms25158484. Int J Mol Sci. 2024. PMID: 39126056 Free PMC article. Review.
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
Li N, Xu Y, Chen H, Lin J, AlAbdi L, Bekheirnia MR, Li G, Gofin Y, Bekheirnia N, Faqeih E, Chen L, Chang G, Tang J, Yao R, Yu T, Wang X, Fu W, Fu Q, Shen Y, Alkuraya FS, Machol K, Wang J. Li N, et al. Among authors: wang x. EBioMedicine. 2024 Jan;99:104940. doi: 10.1016/j.ebiom.2023.104940. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38154379 Free PMC article.
251 results