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Results by year

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

Year Number of Results
1975 1
1976 1
1979 2
1980 5
1982 2
1984 1
1985 4
1987 1
1988 3
1989 4
1990 2
1991 3
1992 4
1993 7
1994 4
1995 8
1996 8
1997 5
1998 4
1999 9
2000 5
2001 11
2002 5
2003 8
2004 8
2005 8
2006 8
2007 9
2008 7
2009 7
2010 12
2011 13
2012 14
2013 18
2014 27
2015 25
2016 18
2017 21
2018 25
2019 40
2020 40
2021 31
2022 24
2023 10

Text availability

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Publication date

PubMed for id: 394425

425 results

Results by year

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Page 1
Juberg-Marsidi syndrome: report of an additional case.
Tsukahara M, Nasu T, Takihara H, Hattori Y, Nakane H, Kamata K, Mitsui H, Hayashida S. Tsukahara M, et al. Am J Med Genet. 1995 Sep 25;58(4):353-5. doi: 10.1002/ajmg.1320580410. Am J Med Genet. 1995. PMID: 8533845 Review.
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
Friez MJ, Brooks SS, Stevenson RE, Field M, Basehore MJ, Adès LC, Sebold C, McGee S, Saxon S, Skinner C, Craig ME, Murray L, Simensen RJ, Yap YY, Shaw MA, Gardner A, Corbett M, Kumar R, Bosshard M, van Loon B, Tarpey PS, Abidi F, Gecz J, Schwartz CE. Friez MJ, et al. BMJ Open. 2016 Apr 29;6(4):e009537. doi: 10.1136/bmjopen-2015-009537. BMJ Open. 2016. PMID: 27130160 Free PMC article.
Molecular-clinical spectrum of the ATR-X syndrome.
Gibbons RJ, Higgs DR. Gibbons RJ, et al. Am J Med Genet. 2000 Fall;97(3):204-12. doi: 10.1002/1096-8628(200023)97:3<204::AID-AJMG1038>3.0.CO;2-X. Am J Med Genet. 2000. PMID: 11449489 Review.
Helicases and aging.
Nakura J, Ye L, Morishima A, Kohara K, Miki T. Nakura J, et al. Cell Mol Life Sci. 2000 May;57(5):716-30. doi: 10.1007/s000180050036. Cell Mol Life Sci. 2000. PMID: 10892338 Review.
Construction of a YAC contig spanning the Xq13.3 subband.
Villard L, Gecz J, Colleaux L, Lossi AM, Chelly J, Ishikawa-Brush Y, Monaco AP, Fontes M. Villard L, et al. Genomics. 1995 Mar 1;26(1):115-22. doi: 10.1016/0888-7543(95)80089-5. Genomics. 1995. PMID: 7782069
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities.
Aprigliano R, Aksu ME, Bradamante S, Mihaljevic B, Wang W, Rian K, Montaldo NP, Grooms KM, Fordyce Martin SL, Bordin DL, Bosshard M, Peng Y, Alexov E, Skinner C, Liabakk NB, Sullivan GJ, Bjørås M, Schwartz CE, van Loon B. Aprigliano R, et al. Cell Rep Med. 2021 Apr 8;2(4):100240. doi: 10.1016/j.xcrm.2021.100240. eCollection 2021 Apr 20. Cell Rep Med. 2021. PMID: 33948573 Free PMC article.
425 results