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Page 1
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: rathkolb b. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
Knockout mouse models as a resource for the study of rare diseases.
da Silva-Buttkus P, Spielmann N, Klein-Rodewald T, Schütt C, Aguilar-Pimentel A, Amarie OV, Becker L, Calzada-Wack J, Garrett L, Gerlini R, Kraiger M, Leuchtenberger S, Östereicher MA, Rathkolb B, Sanz-Moreno A, Stöger C, Hölter SM, Seisenberger C, Marschall S, Fuchs H, Gailus-Durner V, Hrabě de Angelis M. da Silva-Buttkus P, et al. Among authors: rathkolb b. Mamm Genome. 2023 Jun;34(2):244-261. doi: 10.1007/s00335-023-09986-z. Epub 2023 May 9. Mamm Genome. 2023. PMID: 37160609 Free PMC article.
Identifying causal serum protein-cardiometabolic trait relationships using whole genome sequencing.
Png G, Gerlini R, Hatzikotoulas K, Barysenka A, Rayner NW, Klarić L, Rathkolb B, Aguilar-Pimentel JA, Rozman J, Fuchs H, Gailus-Durner V, Tsafantakis E, Karaleftheri M, Dedoussis G, Pietrzik C, Wilson JF, de Angelis MH, Becker-Pauly C, Gilly A, Zeggini E. Png G, et al. Among authors: rathkolb b. Hum Mol Genet. 2023 Apr 6;32(8):1266-1275. doi: 10.1093/hmg/ddac275. Hum Mol Genet. 2023. PMID: 36349687 Free PMC article.
AOX delays the onset of the lethal phenotype in a mouse model of Uqcrh (complex III) disease.
Jacobs HT, Szibor M, Rathkolb B, da Silva-Buttkus P, Aguilar-Pimentel JA, Amarie OV, Becker L, Calzada-Wack J, Dragano N, Garrett L, Gerlini R, Hölter SM, Klein-Rodewald T, Kraiger M, Leuchtenberger S, Marschall S, Östereicher MA, Pfannes K, Sanz-Moreno A, Seisenberger C, Spielmann N, Stoeger C, Wurst W, Fuchs H, Hrabě de Angelis M, Gailus-Durner V. Jacobs HT, et al. Among authors: rathkolb b. Biochim Biophys Acta Mol Basis Dis. 2023 Oct;1869(7):166760. doi: 10.1016/j.bbadis.2023.166760. Epub 2023 May 23. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37230398 Free article.
Dietary digestible carbohydrates are associated with higher prevalence of asthma in humans and with aggravated lung allergic inflammation in mice.
Musiol S, Harris CP, Karlina R, Gostner JM, Rathkolb B, Schnautz B, Schneider E, Mair L, Vergara EE, Flexeder C, Koletzko S, Bauer CP, Schikowski T, Berdel D, von Berg A, Herberth G, Rozman J, Hrabe de Angelis M, Standl M, Schmidt-Weber CB, Ussar S, Alessandrini F. Musiol S, et al. Among authors: rathkolb b. Allergy. 2023 May;78(5):1218-1233. doi: 10.1111/all.15589. Epub 2022 Dec 8. Allergy. 2023. PMID: 36424672
Hypercholesterolemia in ENU-induced mouse mutants.
Mohr M, Klempt M, Rathkolb B, de Angelis MH, Wolf E, Aigner B. Mohr M, et al. Among authors: rathkolb b. J Lipid Res. 2004 Nov;45(11):2132-7. doi: 10.1194/jlr.M400236-JLR200. Epub 2004 Sep 1. J Lipid Res. 2004. PMID: 15342683 Free article.
166 results