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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: stieber c. 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.
[On the fast track to diagnosis : Recommendations for patients without a diagnosis].
Stieber C, Mücke M, Windheuser IC, Grigull L, Klawonn F, Tunc S, Münchau A, Klockgether T. Stieber C, et al. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017 May;60(5):517-522. doi: 10.1007/s00103-017-2535-8. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017. PMID: 28289775 German.
[Drug-induced angioedema : Focus on bradykinin].
Sachs B, Meier T, Nöthen MM, Stieber C, Stingl J. Sachs B, et al. Among authors: stieber c. Hautarzt. 2018 Apr;69(4):298-305. doi: 10.1007/s00105-017-4119-9. Hautarzt. 2018. PMID: 29392343 Review. German.
A systematic review on the role of vitamins, minerals, proteins, and other supplements for the treatment of cachexia in cancer: a European Palliative Care Research Centre cachexia project.
Mochamat, Cuhls H, Marinova M, Kaasa S, Stieber C, Conrad R, Radbruch L, Mücke M. Mochamat, et al. Among authors: stieber c. J Cachexia Sarcopenia Muscle. 2017 Feb;8(1):25-39. doi: 10.1002/jcsm.12127. Epub 2016 Jul 20. J Cachexia Sarcopenia Muscle. 2017. PMID: 27897391 Free PMC article. Review.
[Cannabinoid therapy in practice].
Rasche T, Emmert D, Stieber C, Mücke M, Conrad R. Rasche T, et al. Among authors: stieber c. Urologe A. 2018 May;57(5):558-562. doi: 10.1007/s00120-018-0636-0. Urologe A. 2018. PMID: 29651709 Review. German.
40 results