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

Year Number of Results
1976 1
1983 1
1988 1
1990 1
1991 2
1992 2
1993 2
1995 1
1996 4
1997 1
1998 6
1999 2
2000 4
2002 3
2003 2
2004 3
2005 5
2006 3
2007 2
2008 6
2009 8
2010 10
2011 7
2012 10
2013 10
2014 6
2015 14
2016 10
2017 8
2018 12
2019 16
2020 10
2021 12
2022 19
2023 16
2024 3

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PubMed for id: 3098

193 results

Results by year

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Page 1
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.
Wakeling MN, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL, Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ, Laver TW, van Heugten R, Weedon MN, De Franco E, Patel KA, Ellard S, Morgan NG, Cheesman E, Banerjee I, Hattersley AT, Dunne MJ; International Congenital Hyperinsulinism Consortium; Richardson SJ, Flanagan SE. Wakeling MN, et al. Nat Genet. 2022 Nov;54(11):1615-1620. doi: 10.1038/s41588-022-01204-x. Epub 2022 Nov 4. Nat Genet. 2022. PMID: 36333503 Free PMC article.
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Retterer K, Anyane-Yeboa K, Chung WK. Okur V, et al. Eur J Hum Genet. 2019 Jul;27(7):1081-1089. doi: 10.1038/s41431-019-0366-9. Epub 2019 Feb 18. Eur J Hum Genet. 2019. PMID: 30778173 Free PMC article. Clinical Trial.
The phenotypic variability of HK1-associated retinal dystrophy.
Yuan Z, Li B, Xu M, Chang EY, Li H, Yang L, Wu S, Soens ZT, Li Y, Wong LC, Lewis RA, Sui R, Chen R. Yuan Z, et al. Sci Rep. 2017 Aug 1;7(1):7051. doi: 10.1038/s41598-017-07629-3. Sci Rep. 2017. PMID: 28765615 Free PMC article.
193 results