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A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A. Lecoquierre F, et al. Among authors: kruger e. Genet Med. 2024 Mar 7;26(6):101119. doi: 10.1016/j.gim.2024.101119. Online ahead of print. Genet Med. 2024. PMID: 38465576 Free article.
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Ebstein F, Latypova X, Sharon Hung KY, Prado MA, Lee BH, Möller S, Wendlandt M, Zieba BA, Florenceau L, Vignard V, Poirier L, Toutain B, Moroni I, Dubucs C, Chassaing N, Horvath J, Prokisch H, Küry S, Bézieau S, Paulo JA, Finley D, Krüger E, Ghezzi D, Isidor B. Ebstein F, et al. Among authors: kruger e. Genet Med. 2024 Mar 10;26(6):101120. doi: 10.1016/j.gim.2024.101120. Online ahead of print. Genet Med. 2024. PMID: 38469793 Free article.
Immunoproteasome function maintains oncogenic gene expression in KMT2A-complex driven leukemia.
Tubío-Santamaría N, Jayavelu AK, Schnoeder TM, Eifert T, Hsu CJ, Perner F, Zhang Q, Wenge DV, Hansen FM, Kirkpatrick JM, Jyotsana N, Lane SW, von Eyss B, Deshpande AJ, Kühn MWM, Schwaller J, Cammann C, Seifert U, Ebstein F, Krüger E, Hochhaus A, Heuser M, Ori A, Mann M, Armstrong SA, Heidel FH. Tubío-Santamaría N, et al. Among authors: kruger e. Mol Cancer. 2023 Dec 4;22(1):196. doi: 10.1186/s12943-023-01907-7. Mol Cancer. 2023. PMID: 38049829 Free PMC article.
Global Protein Profiling in Processed Immunohistochemistry Tissue Sections.
Venz S, von Bohlen Und Halbach V, Hentschker C, Junker H, Kuss AW, Sura T, Krüger E, Völker U, von Bohlen Und Halbach O, Jensen LR, Hammer E. Venz S, et al. Among authors: kruger e. Int J Mol Sci. 2023 Jul 11;24(14):11308. doi: 10.3390/ijms241411308. Int J Mol Sci. 2023. PMID: 37511068 Free PMC article.
Representing Sex and Gender Information in Biomedical Research.
Waltemath D, Beelich H, Töpfer P, Bergelt C, Flöel A, Katsari E, Krüger E, Lutze S, Schöner M, Paschen S, Roloff M, Roth H, Stracke S. Waltemath D, et al. Among authors: kruger e. Stud Health Technol Inform. 2023 May 18;302:757-758. doi: 10.3233/SHTI230259. Stud Health Technol Inform. 2023. PMID: 37203489
756 results