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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: schafer vs. 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.
[Prevalence of hypophosphatasia in adult patients in rheumatology].
Karakostas P, Dolscheid-Pommerich R, Hass MD, Weber N, Brossart P, Schäfer VS. Karakostas P, et al. Among authors: schafer vs. Z Rheumatol. 2022 Aug;81(6):513-519. doi: 10.1007/s00393-021-00994-5. Epub 2021 Apr 14. Z Rheumatol. 2022. PMID: 33852075 Free PMC article. German.
Establishment and validation of a didactic musculoskeletal ultrasound course for dermatologists using an innovative handheld ultrasound system - the MUDE study (Musculoskeletal Ultrasound in Dermatology).
Grobelski J, Recker F, Wilsmann-Theis D, Hartung W, Karakostas P, Brossart P, Schäfer VS. Grobelski J, et al. Among authors: schafer vs. J Dtsch Dermatol Ges. 2021 Dec;19(12):1753-1759. doi: 10.1111/ddg.14614. Epub 2021 Nov 25. J Dtsch Dermatol Ges. 2021. PMID: 34821036
94 results