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

Year Number of Results
1993 1
1996 1
1997 1
2002 1
2003 1
2004 8
2005 5
2006 5
2007 6
2009 5
2010 6
2011 10
2012 6
2013 7
2014 14
2015 9
2016 6
2017 4
2018 6
2019 10
2020 6
2021 7
2022 4
2023 3
2024 1

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PubMed for id: 65057

122 results

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Page 1
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Bertrand A, Ba I, Kermasson L, Pirabakaran V, Chable N, Lainey E, Ménard C, Kallel F, Picard C, Hadiji S, Coolen-Allou N, Blanchard E, de Villartay JP, Moshous D, Roelens M, Callebaut I, Kannengiesser C, Revy P. Bertrand A, et al. Hum Mol Genet. 2024 Mar 20;33(7):612-623. doi: 10.1093/hmg/ddad210. Hum Mol Genet. 2024. PMID: 38176734
Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.
Tummala H, Collopy LC, Walne AJ, Ellison A, Cardoso S, Aksu T, Yarali N, Aslan D, Fikret Akata R, Teo J, Songyang Z, Pontikos N, Fitzgibbon J, Tomita K, Vulliamy T, Dokal I. Tummala H, et al. Blood. 2018 Sep 20;132(12):1349-1353. doi: 10.1182/blood-2018-03-837799. Epub 2018 Jul 31. Blood. 2018. PMID: 30064976 Free PMC article. No abstract available.
122 results