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

Year Number of Results
2005 1
2006 1
2007 2
2008 2
2011 1
2012 3
2013 1
2014 4
2015 28
2016 9
2017 13
2018 7
2019 13
2020 17
2021 3
2022 5
2023 3
2024 0

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103 results

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Page 1
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum.
Riva A, Gambadauro A, Dipasquale V, Casto C, Ceravolo MD, Accogli A, Scala M, Ceravolo G, Iacomino M, Zara F, Striano P, Cuppari C, Di Rosa G, Cutrupi MC, Salpietro V, Chimenz R. Riva A, et al. Among authors: cuppari c. Int J Mol Sci. 2021 Apr 25;22(9):4471. doi: 10.3390/ijms22094471. Int J Mol Sci. 2021. PMID: 33922911 Free PMC article.
HMGB1: A pleiotropic activity.
Colavita L, Ciprandi G, Salpietro A, Cuppari C. Colavita L, et al. Among authors: cuppari c. Pediatr Allergy Immunol. 2020 Nov;31 Suppl 26(Suppl 26):63-65. doi: 10.1111/pai.13358. Pediatr Allergy Immunol. 2020. PMID: 33236418 Free PMC article.
HMGB1 modulation in children with allergic rhinitis.
Ciprandi G, Colavita L, Cuppari C, Tosca MA. Ciprandi G, et al. Among authors: cuppari c. Minerva Pediatr (Torino). 2023 Feb;75(1):127-128. doi: 10.23736/S2724-5276.20.05906-X. Epub 2020 Nov 17. Minerva Pediatr (Torino). 2023. PMID: 33203203 No abstract available.
103 results