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

Year Number of Results
1911 1
1923 1
1946 2
1947 1
1948 1
1949 3
1950 1
1951 2
1952 3
1954 1
1955 2
1956 2
1957 1
1958 1
1959 2
1960 2
1962 2
1963 4
1964 3
1965 7
1966 4
1967 9
1968 16
1969 8
1970 8
1971 6
1972 7
1973 6
1974 4
1975 3
1976 4
1977 3
1978 4
1979 3
1980 3
1981 4
1982 2
1983 1
1984 3
1985 5
1986 2
1987 4
1988 3
1989 2
1990 11
1991 1
1992 1
1994 1
1999 2
2000 1
2001 2
2002 3
2004 1
2005 8
2006 6
2007 5
2008 7
2009 9
2010 11
2011 14
2012 13
2013 10
2014 5
2015 6
2016 19
2017 17
2018 12
2019 6
2020 10
2021 6
Text availability
Article attribute
Article type
Publication date

Search Results

323 results
Results by year
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Page 1
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Foley AR, et al. Among authors: abrams aj. Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19. Brain. 2014. PMID: 24253200 Free PMC article.
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M. Sirmaci A, et al. Among authors: abrams a. Am J Hum Genet. 2011 Aug 12;89(2):289-94. doi: 10.1016/j.ajhg.2011.06.007. Epub 2011 Jul 21. Am J Hum Genet. 2011. PMID: 21782149 Free PMC article.
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE. Abrams AJ, et al. Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13. Nat Genet. 2015. PMID: 26168012 Free PMC article.
Neisseria gonorrhoeae Sequence Typing for Antimicrobial Resistance, a Novel Antimicrobial Resistance Multilocus Typing Scheme for Tracking Global Dissemination of N. gonorrhoeae Strains.
Demczuk W, Sidhu S, Unemo M, Whiley DM, Allen VG, Dillon JR, Cole M, Seah C, Trembizki E, Trees DL, Kersh EN, Abrams AJ, de Vries HJC, van Dam AP, Medina I, Bharat A, Mulvey MR, Van Domselaar G, Martin I. Demczuk W, et al. Among authors: abrams aj. J Clin Microbiol. 2017 May;55(5):1454-1468. doi: 10.1128/JCM.00100-17. Epub 2017 Feb 22. J Clin Microbiol. 2017. PMID: 28228492 Free PMC article.
323 results
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