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

Year Number of Results
2002 3
2006 2
2007 2
2008 1
2009 3
2010 3
2015 2
2016 1
2017 1
2019 1
2020 1
2022 1
2023 1
2024 0

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PubMed (GeneRIF) for id: 6905

19 results

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Page 1
Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations.
Sbardella D, Tundo GR, Cunsolo V, Grasso G, Cascella R, Caputo V, Santoro AM, Milardi D, Pecorelli A, Ciaccio C, Di Pierro D, Leoncini S, Campagnolo L, Pironi V, Oddone F, Manni P, Foti S, Giardina E, De Felice C, Hayek J, Curatolo P, Galasso C, Valacchi G, Coletta M, Graziani G, Marini S. Sbardella D, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Jul 1;1866(7):165793. doi: 10.1016/j.bbadis.2020.165793. Epub 2020 Apr 8. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32275946 Free article.
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E. Sferra A, et al. Am J Hum Genet. 2016 Oct 6;99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666369 Free PMC article.
Sanjad-Sakati syndrome in a Tunisian child.
Kerkeni E, Sakka R, Sfar S, Bouaziz S, Ghedira N, Ben Ameur K, Ben Hmida H, Chioukh FZ, Ghédira ES, Gribaa M, Monastiri K. Kerkeni E, et al. Arch Pediatr. 2015 Sep;22(9):951-5. doi: 10.1016/j.arcped.2015.06.003. Epub 2015 Jul 29. Arch Pediatr. 2015. PMID: 26231322
19 results