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Results by year

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

Year Number of Results
1985 1
1986 1
1987 1
1991 1
1993 1
1996 3
1997 2
1999 2
2000 1
2001 1
2002 1
2003 2
2004 1
2006 1
2007 4
2009 2
2010 1
2011 1
2012 1
2013 4
2014 1
2015 2
2016 1
2017 1
2018 2
2019 5
2020 3
2021 3
2022 3
2023 1

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PubMed for id: 1778853

48 results

Results by year

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Page 1
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
Pakdaman Y, Berland S, Bustad HJ, Erdal S, Thompson BA, James PA, Power KN, Ellingsen S, Krooni M, Berge LI, Sexton A, Bindoff LA, Knappskog PM, Johansson S, Aukrust I. Pakdaman Y, et al. Int J Mol Sci. 2021 May 30;22(11):5870. doi: 10.3390/ijms22115870. Int J Mol Sci. 2021. PMID: 34070858 Free PMC article.
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
Bryant D, Seda M, Peskett E, Maurer C, Pomeranz G, Ghosh M, Hawkins TA, Cleak J, Datta S, Hariri H, Eckert KM, Jafree DJ, Walsh C, Demetriou C, Ishida M, Alemán-Charlet C, Vestito L, Seselgyte R, McDonald JG, Bitner-Glindzicz M, Hemberger M, Rihel J, Teboul L, Henne WM, Jenkins D, Moore GE, Stanier P. Bryant D, et al. Sci Rep. 2020 Aug 13;10(1):13763. doi: 10.1038/s41598-020-70797-2. Sci Rep. 2020. PMID: 32792680 Free PMC article.
ATM mutation spectrum in Russian children with ataxia-telangiectasia.
Suspitsin E, Sokolenko A, Bizin I, Tumakova A, Guseva M, Sokolova N, Vakhlyarskaya S, Kondratenko I, Imyanitov E. Suspitsin E, et al. Eur J Med Genet. 2020 Jan;63(1):103630. doi: 10.1016/j.ejmg.2019.02.003. Epub 2019 Feb 14. Eur J Med Genet. 2020. PMID: 30772474
48 results