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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: kretschmer t. 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.
Transition for adolescents with a rare disease: results of a nationwide German project.
Grasemann C, Höppner J, Burgard P, Schündeln MM, Matar N, Müller G, Krude H, Berner R, Lee-Kirsch MA, Hauck F, Wainwright K, Baumgarten S, Atinga J, Bauer JJ, Manka E, Körholz J, Kiewert C, Heinen A, Kretschmer T, Kurth T, Mittnacht J, Schramm C, Klein C, Graessner H, Hiort O, Muntau AC, Grüters A, Hoffmann GF, Choukair D. Grasemann C, et al. Among authors: kretschmer t. Orphanet J Rare Dis. 2023 Apr 25;18(1):93. doi: 10.1186/s13023-023-02698-2. Orphanet J Rare Dis. 2023. PMID: 37098531 Free PMC article.
[Uncovering rare diseases in medical data-coding].
Martin T, Rommel K, Thomas C, Eymann J, Kretschmer T, Berner R, Lee-Kirsch MA, Hebestreit H. Martin T, et al. Among authors: kretschmer t. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2022 Nov;65(11):1133-1142. doi: 10.1007/s00103-022-03598-9. Epub 2022 Oct 14. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2022. PMID: 36239768 Free PMC article. Review. German.
Transition database for rare diseases and its use for clinical documentation.
Zoch M, Gierschner C, Gebler R, Leutner LA, Kretschmer T, Danker A, Lee-Kirsch MA, Berner R, Sedlmayr M. Zoch M, et al. Among authors: kretschmer t. Health Informatics J. 2024 Apr-Jun;30(2):14604582241259322. doi: 10.1177/14604582241259322. Health Informatics J. 2024. PMID: 38855877 Free article.
Core outcomes in nerve surgery: development of a core outcome set for common peroneal (fibular) neuropathy.
Wilson TJ, Ali ZS, Davis GA, Dengler NF, Desai K, Garozzo D, Guedes F, Jack MM, Jacques LG, Kretschmer T, Mahan MA, Midha R, Pondaag W, Puffer RC, Rasulic L, Ray WZ, Rizk E, Rodriguez-Aceves CA, Shapira Y, Smith BW, Socolovsky M, Spinner RJ, Zager EL. Wilson TJ, et al. Among authors: kretschmer t. J Neurosurg. 2024 Aug 16:1-9. doi: 10.3171/2024.5.JNS24614. Online ahead of print. J Neurosurg. 2024. PMID: 39151186
In Reply: Thoracic Outlet Syndrome Part I: Systematic Review of the Literature and Consensus on Anatomy, Diagnosis, and Classification of Thoracic Outlet Syndrome, and Thoracic Outlet Syndrome Part II: Consensus on the Management of Thoracic Outlet Syndrome by the European Association of Neurosurgical Societies' Section of Peripheral Nerve Surgery.
Dengler NF, Ferraresi S, Rochkind S, Denisova N, Garozzo D, Heinen C, Alimehmeti R, Capone C, Barone DG, Zdunczyk A, Pedro MT, Antoniadis G, Kaiser R, Dubuisson A, Kretschmer T, Rasulic L. Dengler NF, et al. Among authors: kretschmer t. Neurosurgery. 2024 Sep 1;95(3):e93-e94. doi: 10.1227/neu.0000000000003112. Epub 2024 Jul 11. Neurosurgery. 2024. PMID: 38990007 No abstract available.
Open Microsurgical Cerebral Aneurysm Treatment After Failed Endovascular Therapy: An Evaluation of Aneurysm Treatment Frequencies in All Neurovascular Centers Across Austria and the Czech Republic Over 20 Years.
Griessenauer CJ, Dodier P, Stroh NH, Mercea PA, Bavinzski G, Dorfer C, Rössler K, Gruber A, Gmeiner M, Thomé C, Leber KA, Wolfsberger S, Baghban M, Al-Schameri R, Kral M, Thakur S, Lunzer M, Popadic B, Sherif C, Juráň V, Smrčka M, Netuka D, Štekláčová A, Lipina R, Hrbáč T, Večeřa Z, Fiedler J, Grubhoffer M, Hrabálek L, Krahulík D, Koller L, Kretschmer T, Přibáň V, Mraček J, Sameš M, Hejčl A, Klener J, Šroubek J, Petr O. Griessenauer CJ, et al. Among authors: kretschmer t. Neurosurgery. 2024 Jun 12. doi: 10.1227/neu.0000000000003040. Online ahead of print. Neurosurgery. 2024. PMID: 38864626
Single and combined exposures to bisphenol A and benzophenone-3 during early mouse pregnancy have differential effects on fetal and placental development.
Fischer F, Kretschmer T, Seifert P, Howanski J, Krieger E, Rödiger J, Fink B, Yin Z, Bauer M, Zenclussen ML, Meyer N, Schumacher A, Zenclussen AC. Fischer F, et al. Among authors: kretschmer t. Sci Total Environ. 2024 Apr 20;922:171386. doi: 10.1016/j.scitotenv.2024.171386. Epub 2024 Feb 29. Sci Total Environ. 2024. PMID: 38431166 Free article.
123 results