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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: holzhauer s. 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.
Current Diagnostic and Therapeutic Approaches in May-Thurner Syndrome in Children, Adolescents, and Young Adults: A Survey among Thrombosis Experts of the German Society of Thrombosis and Haemostasis.
Cuntz F, Gebauer B, Greiner A, Hagedorn N, Reschke M, Eberl W, Zieger B, Lindhoff-Last E, Holzhauer S. Cuntz F, et al. Among authors: holzhauer s. Hamostaseologie. 2024 Jun 26. doi: 10.1055/a-2282-4565. Online ahead of print. Hamostaseologie. 2024. PMID: 38925155 Free article.
New recommendations on cerebral venous and dural sinus thrombosis from the German consensus-based (S2k) guideline.
Weimar C, Beyer-Westendorf J, Bohmann FO, Hahn G, Halimeh S, Holzhauer S, Kalka C, Knoflach M, Koennecke HC, Masuhr F, Mono ML, Nowak-Göttl U, Scherret E, Schlamann M, Linnemann B. Weimar C, et al. Among authors: holzhauer s. Neurol Res Pract. 2024 Apr 19;6(1):23. doi: 10.1186/s42466-024-00320-9. Neurol Res Pract. 2024. PMID: 38637841 Free PMC article.
Limited effects of population age on the genetic structure of spatially isolated forest herb populations in temperate Europe.
Huang S, Feigs JT, Holzhauer SIJ, Kramp K, Brunet J, Decocq G, De Frenne P, Diekmann M, Liira J, Spicher F, Vangansbeke P, Vanneste T, Verheyen K, Naaf T. Huang S, et al. Among authors: holzhauer sij. Ecol Evol. 2024 Feb 26;14(2):e10971. doi: 10.1002/ece3.10971. eCollection 2024 Feb. Ecol Evol. 2024. PMID: 38414568 Free PMC article.
86 results