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Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Quinodoz M, Kaminska K, Cancellieri F, Han JH, Peter VG, Celik E, Janeschitz-Kriegl L, Schärer N, Hauenstein D, György B, Calzetti G, Hahaut V, Custódio S, Sousa AC, Wada Y, Murakami Y, Fernández AA, Hernández CR, Minguez P, Ayuso C, Nishiguchi KM, Santos C, Santos LC, Tran VH, Vaclavik V, Scholl HPN, Rivolta C. Quinodoz M, et al. Among authors: scholl hpn. Am J Hum Genet. 2024 Apr 4;111(4):701-713. doi: 10.1016/j.ajhg.2024.03.001. Epub 2024 Mar 25. Am J Hum Genet. 2024. PMID: 38531366 Free PMC article.
The Optical Coherence Tomography and Microperimetry Biomarker Evaluation in Patients with Geographic Atrophy (OMEGA) Study: Design and Baseline Characteristics - OMEGA Report 1.
Ansari G, Schärer N, Camenzind Zuche H, Gabrani C, Anders P, Pfau K, Valmaggia P, Giani A, Esmaeelpour M, Chingning Yamaguchi T, Prünte CF, Maloca PM, Schmetterer L, Scholl HPN, Pfau M. Ansari G, et al. Among authors: scholl hpn. Ophthalmic Res. 2023;66(1):1392-1401. doi: 10.1159/000535375. Epub 2023 Nov 28. Ophthalmic Res. 2023. PMID: 38016431 Free article.
The biophysical and compositional properties of human basement membranes.
Schoenenberger MS, Halfter W, Ferrand A, Halfter K, Tzankov A, Scholl HPN, Henrich PB, Monnier CA. Schoenenberger MS, et al. Among authors: scholl hpn. FEBS J. 2024 Feb;291(3):477-488. doi: 10.1111/febs.17007. Epub 2023 Nov 29. FEBS J. 2024. PMID: 37984833
384 results