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

Year Number of Results
2004 1
2005 1
2006 2
2011 1
2012 1
2013 4
2014 7
2015 2
2016 3
2017 9
2018 10
2019 10
2020 7
2021 7
2022 8
2023 4
2024 0

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64 results

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Page 1
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel HL, Reiter AMV, Elsner J, Meinecke P, Biskup S, Chung BHY, Dombrowsky G, Eckmann-Scholz C, Hitz MP, Hoischen A, Holterhus PM, Hülsemann W, Kahrizi K, Kalscheuer VM, Kan A, Krumbiegel M, Kurth I, Leubner J, Longardt AC, Moritz JD, Najmabadi H, Skipalova K, Snijders Blok L, Tzschach A, Wiedersberg E, Zenker M, Garcia-Cabau C, Buschow R, Salvatella X, Kraushar ML, Mundlos S, Caliebe A, Spielmann M, Horn D, Hnisz D. Mensah MA, et al. Among authors: kan a. Nature. 2023 Feb;614(7948):564-571. doi: 10.1038/s41586-022-05682-1. Epub 2023 Feb 8. Nature. 2023. PMID: 36755093 Free PMC article.
Adrenomedullin has a pivotal role in trophoblast differentiation: A promising nanotechnology-based therapeutic target for early-onset preeclampsia.
Zhang Q, Lee CL, Yang T, Li J, Zeng Q, Liu X, Liu Z, Ruan D, Li Z, Kan ASY, Cheung KW, Mak ASL, Ng VWY, Zhao H, Fan X, Duan YG, Zhong L, Chen M, Du M, Li RHW, Liu P, Ng EHY, Yeung WSB, Gao Y, Yao Y, Chiu PCN. Zhang Q, et al. Among authors: kan asy. Sci Adv. 2023 Nov 3;9(44):eadi4777. doi: 10.1126/sciadv.adi4777. Epub 2023 Nov 3. Sci Adv. 2023. PMID: 37922358 Free PMC article.
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT, Yu MHC, Chui MMC, Yeung CCW, Kwok AWC, Zhuang X, Lee R, Fung JLF, Lee M, Mak CCY, Ng NYT, Chung CCY, Chan MCY, Tsang MHY, Chan JCK, Chan KYK, Kan ASY, Chung PHY, Yang W, Lee SL, Chan GCF, Tam PKH, Lau YL, Yeung KS, Chung BHY, Tang CSM. Chau JFT, et al. Among authors: kan asy. NPJ Genom Med. 2022 Mar 21;7(1):23. doi: 10.1038/s41525-022-00287-z. NPJ Genom Med. 2022. PMID: 35314707 Free PMC article.
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Pagnamenta AT, Jackson A, Perveen R, Beaman G, Petts G, Gupta A, Hyder Z, Chung BH, Kan AS, Cheung KW, Kerstjens-Frederikse WS, Abbott KM; Genomics England Research Consortium; Elpeleg O, Taylor JC, Banka S, Ta-Shma A. Pagnamenta AT, et al. Among authors: kan as. Clin Genet. 2022 Jan;101(1):127-133. doi: 10.1111/cge.14071. Epub 2021 Oct 11. Clin Genet. 2022. PMID: 34612517
64 results