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

Year Number of Results
1972 1
1988 5
2006 2
2007 2
2008 2
2009 1
2010 2
2011 3
2013 2
2015 3
2016 4
2017 5
2018 1
2019 2
2021 11
2022 5
2023 7
2024 1

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54 results

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Page 1
Assaying RIPK2 Activation by Complex Formation.
Steinle H, Ellwanger K, Kufer TA. Steinle H, et al. Among authors: ellwanger k. Methods Mol Biol. 2022;2523:133-150. doi: 10.1007/978-1-0716-2449-4_9. Methods Mol Biol. 2022. PMID: 35759195
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
Physiological functions of protein kinase D in vivo.
Ellwanger K, Hausser A. Ellwanger K, et al. IUBMB Life. 2013 Feb;65(2):98-107. doi: 10.1002/iub.1116. Epub 2013 Jan 3. IUBMB Life. 2013. PMID: 23288632 Free article. Review.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Among authors: ellwanger k. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
Cellular stress promotes NOD1/2-dependent inflammation via the endogenous metabolite sphingosine-1-phosphate.
Pei G, Zyla J, He L, Moura-Alves P, Steinle H, Saikali P, Lozza L, Nieuwenhuizen N, Weiner J, Mollenkopf HJ, Ellwanger K, Arnold C, Duan M, Dagil Y, Pashenkov M, Boneca IG, Kufer TA, Dorhoi A, Kaufmann SH. Pei G, et al. Among authors: ellwanger k. EMBO J. 2021 Jul 1;40(13):e106272. doi: 10.15252/embj.2020106272. Epub 2021 May 4. EMBO J. 2021. PMID: 33942347 Free PMC article.
54 results