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

Year Number of Results
1998 2
2003 3
2006 2
2007 4
2008 2
2009 1
2010 3
2011 5
2012 4
2013 1
2014 1
2016 2
2017 4
2018 4
2019 1
2020 6
2021 1
2022 2
2023 4
2024 0

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45 results

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Page 1
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Morgan AT, Scerri TS, Vogel AP, Reid CA, Quach M, Jackson VE, McKenzie C, Burrows EL, Bennett MF, Turner SJ, Reilly S, Horton SE, Block S, Kefalianos E, Frigerio-Domingues C, Sainz E, Rigbye KA, Featherby TJ, Richards KL, Kueh A, Herold MJ, Corbett MA, Gecz J, Helbig I, Thompson-Lake DGY, Liégeois FJ, Morell RJ, Hung A, Drayna D, Scheffer IE, Wright DK, Bahlo M, Hildebrand MS. Morgan AT, et al. Brain. 2023 Dec 1;146(12):5086-5097. doi: 10.1093/brain/awad314. Brain. 2023. PMID: 37977818
Neurotrophin signaling is a central mechanism of salivary dysfunction after irradiation that disrupts myoepithelial cells.
Chibly AM, Patel VN, Aure MH, Pasquale MC; NIDCD/NIDCR Genomics and Computational Biology Core; Martin GE, Ghannam M, Andrade J, Denegre NG, Simpson C, Goldstein DP, Liu FF, Lombaert IMA, Hoffman MP. Chibly AM, et al. NPJ Regen Med. 2023 Mar 25;8(1):17. doi: 10.1038/s41536-023-00290-7. NPJ Regen Med. 2023. PMID: 36966175 Free PMC article.
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, Sulmonte LAG, Wonkam A, Schrauwen I, Leal SM, Azaiez H, Brewer CC, Riazuddin S, Hufnagel RB, Hoa M, Zein WM, de Dios JK, Friedman TB. Faridi R, et al. Clin Genet. 2023 Jun;103(6):699-703. doi: 10.1111/cge.14312. Epub 2023 Mar 13. Clin Genet. 2023. PMID: 36807241
Lysosomal exocytosis of HSP70 stimulates monocytic BMP6 expression in Sjögren's syndrome.
Mo YQ, Nakamura H, Tanaka T, Odani T, Perez P, Ji Y, French BN, Pranzatelli TJ, Michael DG, Yin H, Chow SS, Khalaj M, Afione SA, Zheng C, Oliveira FR, Motta ACF, Ribeiro-Silva A, Rocha EM, Nguyen CQ, Noguchi M, Atsumi T, Warner BM, Chiorini JA. Mo YQ, et al. J Clin Invest. 2022 Mar 15;132(6):e152780. doi: 10.1172/JCI152780. J Clin Invest. 2022. PMID: 35113815 Free PMC article.
45 results