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Results by year

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

Year Number of Results
1954 1
1955 1
1959 1
1968 1
1969 1
1972 2
1974 3
1976 1
1977 4
1978 3
1979 4
1980 1
1981 2
1982 2
1983 2
1984 1
1985 5
1986 3
1987 3
1988 3
1989 4
1990 4
1991 4
1992 4
1993 7
1994 9
1995 5
1996 3
1997 4
1998 7
1999 4
2000 9
2001 9
2002 5
2003 11
2004 10
2005 7
2006 10
2007 10
2008 13
2009 13
2010 23
2011 30
2012 26
2013 27
2014 39
2015 26
2016 24
2017 36
2018 33
2019 32
2020 31
2021 37
2022 44
2023 41
2024 25

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Publication date

Search Results

603 results

Results by year

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Page 1
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M. Yates TM, et al. Among authors: low k. Hum Mutat. 2020 May;41(5):1042-1050. doi: 10.1002/humu.24001. Epub 2020 Mar 5. Hum Mutat. 2020. PMID: 32097528 Free article.
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Among authors: low kj. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.
Hamad A, Sherlaw-Sturrock CA, Glover K, Salmon R, Low K, Nair R, Sansbury FH, Rawlins L, Carmichael J, Horton R, Wedderburn S, Edgerley K, Irving R, Callaghan M, Mercer C, McGowan R, Robert L, Titheradge H, Naik S. Hamad A, et al. Among authors: low k. Eur J Med Genet. 2023 Apr;66(4):104714. doi: 10.1016/j.ejmg.2023.104714. Epub 2023 Jan 29. Eur J Med Genet. 2023. PMID: 36724812
Molecular mechanisms of amyloid disaggregation.
Low KJY, Venkatraman A, Mehta JS, Pervushin K. Low KJY, et al. J Adv Res. 2021 May 20;36:113-132. doi: 10.1016/j.jare.2021.05.007. eCollection 2022 Feb. J Adv Res. 2021. PMID: 35127169 Free PMC article. Review.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. Among authors: low k. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
Noncanonical NF-κB Signaling in Health and Disease.
Cildir G, Low KC, Tergaonkar V. Cildir G, et al. Among authors: low kc. Trends Mol Med. 2016 May;22(5):414-429. doi: 10.1016/j.molmed.2016.03.002. Epub 2016 Apr 7. Trends Mol Med. 2016. PMID: 27068135 Review.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: low kj. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
Dopa responsive dystonia.
Low K, Harding T, Jardine P. Low K, et al. BMJ. 2010 Mar 4;340:c668. doi: 10.1136/bmj.c668. BMJ. 2010. PMID: 20203076 No abstract available.
Bacteria as tumour-targeting vectors.
Pawelek JM, Low KB, Bermudes D. Pawelek JM, et al. Among authors: low kb. Lancet Oncol. 2003 Sep;4(9):548-56. doi: 10.1016/s1470-2045(03)01194-x. Lancet Oncol. 2003. PMID: 12965276 Review.
603 results