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Page 1
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann … See abstract for full author list ➔ Schmidt A, et al. Among authors: karakostas p. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
Transorbital ultrasound in the diagnosis of giant cell arteritis.
Petzinna SM, Burg LC, Bauer CJ, Karakostas P, Terheyden JH, Behning C, Holz FG, Brossart P, Finger RP, Schäfer VS. Petzinna SM, et al. Among authors: karakostas p. Rheumatology (Oxford). 2024 Sep 1;63(9):2379-2386. doi: 10.1093/rheumatology/keae287. Rheumatology (Oxford). 2024. PMID: 38759118
Myxoma of the upper lip: a case report and brief review of the literature.
Tilaveridis I, Kalaitsidou I, Karakostas P, Tsavos I, Tilaveridou S, Hliopoulos M, Zarampouka K. Tilaveridis I, et al. Among authors: karakostas p. J Surg Case Rep. 2023 May 25;2023(5):rjad269. doi: 10.1093/jscr/rjad269. eCollection 2023 May. J Surg Case Rep. 2023. PMID: 37251249 Free PMC article.
32 results