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

Year Number of Results
2000 1
2006 1
2007 1
2008 2
2009 2
2010 3
2012 1
2013 1
2017 1
2018 3
2019 11
2020 13
2021 18
2022 20
2023 16
2024 8

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95 results

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Page 1
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Synchronous Volvulus of Ascending and Transverse Colon.
Mengistu S, Asnake M, Hassen S, Mekonnen B. Mengistu S, et al. Among authors: mekonnen b. Int Med Case Rep J. 2023 Jun 30;16:397-400. doi: 10.2147/IMCRJ.S413600. eCollection 2023. Int Med Case Rep J. 2023. PMID: 37408755 Free PMC article.
Loss of ARL13 impedes BBSome-dependent cargo export from Chlamydomonas cilia.
Dai J, Zhang G, Alkhofash RA, Mekonnen B, Saravanan S, Xue B, Fan ZC, Betleja E, Cole DG, Liu P, Lechtreck K. Dai J, et al. Among authors: mekonnen b. J Cell Biol. 2022 Oct 3;221(10):e202201050. doi: 10.1083/jcb.202201050. Epub 2022 Aug 30. J Cell Biol. 2022. PMID: 36040375 Free PMC article.
95 results