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Variant interpretation in molecular autopsy: a useful dilemma.
Scheiper-Welling S, Tabunscik M, Gross TE, Jenewein T, Beckmann BM, Niess C, Gradhand E, Wunder C, Schneider PM, Rothschild MA, Verhoff MA, Kauferstein S. Scheiper-Welling S, et al. Among authors: beckmann bm. Int J Legal Med. 2022 Mar;136(2):475-482. doi: 10.1007/s00414-021-02764-z. Epub 2022 Jan 29. Int J Legal Med. 2022. PMID: 35091851 Free PMC article.
Clinical utility gene card for: Long-QT syndrome.
Beckmann BM, Scheiper-Welling S, Wilde AAM, Kääb S, Schulze-Bahr E, Kauferstein S. Beckmann BM, et al. Eur J Hum Genet. 2021 Dec;29(12):1825-1832. doi: 10.1038/s41431-021-00904-y. Epub 2021 May 24. Eur J Hum Genet. 2021. PMID: 34031550 Free PMC article. No abstract available.
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škorić-Milosavljević D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino D… See abstract for full author list ➔ Walsh R, et al. Among authors: beckmann bm. Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7. Genet Med. 2021. PMID: 32893267 Free PMC article.
Defective Desmosomal Adhesion Causes Arrhythmogenic Cardiomyopathy by Involving an Integrin-αVβ6/TGF-β Signaling Cascade.
Schinner C, Xu L, Franz H, Zimmermann A, Wanuske MT, Rathod M, Hanns P, Geier F, Pelczar P, Liang Y, Lorenz V, Stüdle C, Maly PI, Kauferstein S, Beckmann BM, Sheikh F, Kuster GM, Spindler V. Schinner C, et al. Among authors: beckmann bm. Circulation. 2022 Nov 22;146(21):1610-1626. doi: 10.1161/CIRCULATIONAHA.121.057329. Epub 2022 Oct 21. Circulation. 2022. PMID: 36268721 Free PMC article.
Fetal Bradycardia Caused by Monogenic Disorders-A Review of the Literature.
Westphal DS, Hauser M, Beckmann BM, Wolf CM, Hessling G, Oberhoffer-Fritz R, Wacker-Gussmann A. Westphal DS, et al. Among authors: beckmann bm. J Clin Med. 2022 Nov 22;11(23):6880. doi: 10.3390/jcm11236880. J Clin Med. 2022. PMID: 36498454 Free PMC article. Review.
Seizures on hearing the alarm clock.
Vollmar C, Feddersen B, Beckmann BM, Kääb S, Noachtar S. Vollmar C, et al. Among authors: beckmann bm. Lancet. 2007 Dec 22;370(9605):2172. doi: 10.1016/S0140-6736(07)61913-8. Lancet. 2007. PMID: 18156040 No abstract available.
79 results