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

Year Number of Results
1998 1
1999 2
2000 1
2001 1
2002 1
2003 1
2004 1
2005 2
2006 1
2007 2
2011 1
2012 2
2013 3
2015 2
2016 2
2017 1
2018 1
2020 3
2021 3
2022 7
2023 1
2024 0

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36 results

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Page 1
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M. Maroofian R, et al. Among authors: ejeskar k. Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. Brain. 2023. PMID: 37517035 Free PMC article.
Inflammation suppresses DLG2 expression decreasing inflammasome formation.
Keane S, Herring M, Rolny P, Wettergren Y, Ejeskär K. Keane S, et al. Among authors: ejeskar k. J Cancer Res Clin Oncol. 2022 Sep;148(9):2295-2311. doi: 10.1007/s00432-022-04029-7. Epub 2022 May 2. J Cancer Res Clin Oncol. 2022. PMID: 35499706 Free PMC article. Clinical Trial.
Variable skeletal phenotypes associated with biallelic variants in PRKG2.
Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, Ferla MP, Toosi MB, Calder AD, Karimiani EG, Doosti M, Wainwright A, Wordsworth P, Bailey K, Ejeskär K, Lester T, Maroofian R, Heath KE, Tajsharghi H, Shears D, Taylor JC; Genomics England Research Consortium. Pagnamenta AT, et al. Among authors: ejeskar k. J Med Genet. 2022 Oct;59(10):947-950. doi: 10.1136/jmedgenet-2021-108027. Epub 2021 Nov 15. J Med Genet. 2022. PMID: 34782440 Free PMC article. No abstract available.
MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression.
Tomić TT, Olausson J, Rehammar A, Deland L, Muth A, Ejeskär K, Nilsson S, Kristiansson E, Wassén ON, Abel F. Tomić TT, et al. Among authors: ejeskar k. PLoS Genet. 2020 Jun 8;16(6):e1008803. doi: 10.1371/journal.pgen.1008803. eCollection 2020 Jun. PLoS Genet. 2020. PMID: 32511227 Free PMC article.
36 results