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Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.
Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, Janecke A, Kling R, König R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D. Tasse C, et al. Among authors: fischer s. Eur J Med Genet. 2005 Oct-Dec;48(4):397-411. doi: 10.1016/j.ejmg.2005.04.015. Epub 2005 Jun 8. Eur J Med Genet. 2005. PMID: 16378924
A family with autosomal dominant oculo-auriculo-vertebral spectrum.
Tasse C, Majewski F, Böhringer S, Fischer S, Lüdecke HJ, Gillessen-Kaesbach G, Wieczorek D. Tasse C, et al. Among authors: fischer s. Clin Dysmorphol. 2007 Jan;16(1):1-7. doi: 10.1097/MCD.0b013e328010d313. Clin Dysmorphol. 2007. PMID: 17159507 Review.
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. Teber OA, et al. Among authors: fischer s. Eur J Hum Genet. 2004 Nov;12(11):879-90. doi: 10.1038/sj.ejhg.5201260. Eur J Hum Genet. 2004. PMID: 15340364
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.
Wieczorek D, Gener B, González MJ, Seland S, Fischer S, Hehr U, Kuechler A, Hoefsloot LH, de Leeuw N, Gillessen-Kaesbach G, Lohmann DR. Wieczorek D, et al. Among authors: fischer s. Am J Med Genet A. 2009 May;149A(5):837-43. doi: 10.1002/ajmg.a.32747. Am J Med Genet A. 2009. PMID: 19334086
Improving replicability in single-cell RNA-Seq cell type discovery with Dune.
Roux de Bézieux H, Street K, Fischer S, Van den Berge K, Chance R, Risso D, Gillis J, Ngai J, Purdom E, Dudoit S. Roux de Bézieux H, et al. Among authors: fischer s. BMC Bioinformatics. 2024 May 24;25(1):198. doi: 10.1186/s12859-024-05814-6. BMC Bioinformatics. 2024. PMID: 38789920 Free PMC article.
Online Adaptive MR-Guided Ultrahypofractionated Radiotherapy of Prostate Cancer on a 1.5 T MR-Linac: Clinical Experience and Prospective Evaluation.
Potkrajcic V, Gani C, Fischer SG, Boeke S, Niyazi M, Thorwarth D, Voigt O, Schneider M, Mönnich D, Kübler S, Boldt J, Hoffmann E, Paulsen F, Mueller AC, Wegener D. Potkrajcic V, et al. Among authors: fischer sg. Curr Oncol. 2024 May 9;31(5):2679-2688. doi: 10.3390/curroncol31050203. Curr Oncol. 2024. PMID: 38785484 Free PMC article.
3,678 results