1,267 results on '"Kohl, S"'
Search Results
2. The first Doppler imaging of the active binary prototype RS Canum Venaticorum
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Xiang, Yue, Gu, Shenghong, Wolter, U., Schmitt, J. H. M. M., Cameron, A. Collier, Barnes, J. R., Mittag, M., Perdelwitz, V., and Kohl, S.
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Astrophysics - Solar and Stellar Astrophysics - Abstract
We present the first Doppler images of the prototypical active binary star RS CVn, derived from high-resolution spectra observed in 2004, 2016 and 2017, using three different telescopes and observing sites. We apply the least-squares deconvolution technique to all observed spectra to obtain high signal-to-noise line profiles, which are used to derive the surface images of the active K-type component. Our images show a complex spot pattern on the K star, distributed widely in longitude. All starspots revealed by our Doppler images are located below a latitude of about 70$^{\circ}$. In accordance with previous light-curve modeling studies, we find no indication of a polar spot on the K star. Using Doppler images derived from two consecutive rotational cycles, we estimate a surface differential rotation rate of $\Delta\Omega = -0.039 \pm 0.003 ~rad~d^{-1}$ and $\alpha = \Delta\Omega/\Omega_{eq} = -0.030 \pm 0.002$ for the K star. Given the limited phase coverage during those two rotations, the uncertainty of our differential rotation estimate is presumably higher., Comment: 11 pages, 10 figures, accepted for publication in MNRAS
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- 2020
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3. A classification of the finite non-solvable minimal non-CA-groups
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Jafari, L., Kohl, S., and Zarrin, M.
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Mathematics - Group Theory - Abstract
A group is called a CA-group if the centralizer of every non-central element is abelian. Furthermore, a group is called a minimal non-CA-group if it is not a CA-group itself, but all of its proper subgroups are. In this paper, we give a classification of the finite non-solvable minimal non-CA-groups.
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- 2019
4. Atmospheric characterization of the ultra-hot Jupiter MASCARA-2b/KELT-20b
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Casasayas-Barris, N., Palle, E., Yan, F., Chen, G., Kohl, S., Stangret, M., Parviainen, H., Helling, Ch., Watanabe, N., Czesla, S., Fukui, A., Montañes-Rodriguez, P., Nagel, E., Narita, N., Nortmann, L., Nowak, G., Schmit, J. H. M. M., and Osorio, M. R. Zapatero
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Astrophysics - Earth and Planetary Astrophysics - Abstract
Ultra hot Jupiters orbit very close to their host star and consequently receive strong irradiation that makes their atmospheric chemistry different from the common gas giants. Here, we study the atmosphere of one of these particular hot planets, MASCARA-2b/KELT-20b, using four transit observations with high resolution spectroscopy facilities. Three of these observations were performed with HARPS-N and one with CARMENES. We simultaneously observed one of the transits with MuSCAT2 to monitor possible spots in the stellar surface. At high resolution, the transmission residuals show the effects of Rossiter-McLaughlin and center-to-limb variations from the stellar lines profiles, which we correct to finally extract the transmission spectra of the planet. We clearly observe absorption of CaII, FeII, NaI, H$\alpha$ and H$\beta$ in the atmosphere of MASCARA-2b, and indications of H$\gamma$ and MgI at low SNR. The results obtained with CARMENES and HARPS-N are consistent, measuring an H$\alpha$ absorption depth of $0.68\pm0.05\%$ and $0.59\pm0.07\%$, and NaI absorption of $0.11\pm0.04\%$ and $0.09\pm0.05\%$ ($0.75\r{A}$ passband), in both instruments respectively. For H$\beta$ only HARPS-N covers this wavelength range, measuring $0.28\pm0.06\%$ of absorption. The CaII is only covered with CARMENES, measuring an average absorption of $0.32\pm0.05\%$. Three additional FeII lines are observed in the transmission spectrum by HARPS-N, with mean absorption depth of $0.08\pm0.04\%$. The results presented here are consistent with theoretical models of ultra hot Jupiters atmospheres, suggesting the emergence of an ionised gas on the day-side of such planets. Ca and Fe, with other elements, are expected to be singly ionised at these temperatures and be more numerous than its neutral state. The CaII triplet lines are detected here for the first time in transmission in an exoplanet atmosphere., Comment: accepted
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- 2019
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5. Activity induced variation in spin-orbit angles as derived from Rossiter-McLaughlin measurements
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Oshagh, M., Triaud, A. H. M. J., Burdanov, A., Figueira, P., Reiners, A., Santos, N. C., Faria, J., Boue, G., Diaz, R. F., Dreizler, S., Boldt, S., Delrez, L., Ducrot, E., Gillon, M., Mesa, A. Guzman, Jehin, E., Khalafinejad, S., Kohl, S., Serrano, L., and Udry, S.
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Astrophysics - Earth and Planetary Astrophysics ,Astrophysics - Solar and Stellar Astrophysics - Abstract
One of the most powerful methods used to estimate sky-projected spin-orbit angles of exoplanetary systems is through a spectroscopic transit observation known as the Rossiter-McLaughlin (RM) effect. So far mostly single RM observations have been used to estimate the spin-orbit angle, and thus there have been no studies regarding the variation of estimated spin-orbit angle from transit to transit. Stellar activity can alter the shape of photometric transit light curves and in a similar way they can deform the RM signal. In this paper we discuss several RM observations, obtained using the HARPS spectrograph, of known transiting planets that all transit extremely active stars, and by analyzing them individually we assess the variation in the estimated spin-orbit angle. Our results reveal that the estimated spin-orbit angle can vary significantly (up to 42 degrees) from transit to transit, due to variation in the configuration of stellar active regions over different nights. This finding is almost two times larger than the expected variation predicted from simulations. We could not identify any meaningful correlation between the variation of estimated spin-orbit angles and the stellar magnetic activity indicators. We also investigated two possible approaches to mitigate the stellar activity influence on RM observations. The first strategy was based on obtaining several RM observations and folding them to reduce the stellar activity noise. Our results demonstrated that this is a feasible and robust way to overcome this issue. The second approach is based on acquiring simultaneous high-precision short-cadence photometric transit light curves using TRAPPIST/SPECULOOS telescopes, which provide more information about the stellar active region's properties and allow a better RM modeling., Comment: 18 pages, 7 figures, 6 tables, accepted for publication in A&A
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- 2018
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6. Fünfzehnjähriges Mädchen mit geschwollenen und geröteten Zehen
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Kohl, S. and Eifler, L.
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- 2022
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7. Postnatal surgical treatment and complications following intrauterine vesicoamniotic shunting with the SOMATEX® intrauterine shunt. A single center experience
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Kohaut, J., Fischer-Mertens, J., Cernaianu, G., Schulten, D., Holtkamp, G., Kohl, S., Habbig, S., Klein, R., Kribs, A., Gottschalk, I., Berg, C., and Dübbers, M.
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- 2023
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8. Implementation of advanced Optimum Contribution Selection in small-scale breeding schemes: prospects and challenges in Vorderwald cattle
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Kohl, S., Wellmann, R., and Herold, P.
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- 2020
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9. Advanced optimum contribution selection as a tool to improve regional cattle breeds: a feasibility study for Vorderwald cattle
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Kohl, S., Wellmann, R., and Herold, P.
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- 2020
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10. Screening of Autism Spectrum Disorders in Older Adults
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Heijnen-Kohl, S. M. J., primary
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- 2021
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11. "Palliare" surrounded with care.
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Wauters, Martine, primary, Kohl, S, additional, De Laet, F, additional, Gios, J, additional, Janssens, A, additional, and Vandamme, Timon, additional
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- 2023
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12. 5-lead 3D-vectorcardiography differentiates between high and low cardiovascular risk profiles in patients with suspected or know coronary heart disease
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Schmidt-Lucke, C, primary, Kohl, S, additional, Kammeier, A, additional, Knobl, H, additional, Burchert, W, additional, Schmidt-Lucke, J A, additional, Lischke, B, additional, and Lindner, O, additional
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- 2023
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13. Screening of Autism Spectrum Disorders in Geriatric Psychiatry
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Heijnen-Kohl, S. M. J., Kok, R. M., Wilting, R. M. H. J., Rossi, G., and van Alphen, S. S. J.
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Autism spectrum disorders (ASD) are difficult to detect in old age. This study examined if ASD symptoms in older adults (age > 60) can be detected with the Dutch informant personality questionnaire, (Hetero-Anamnestische Persoonlijkheidsvragenlijst, HAP) in a mental health setting. Patients with ASD (N = 40) were compared to patients with a different psychiatric diagnosis (N = 43; personality disorders excluded). The ASD group had significant higher scores on the scales "Socially avoidant behavior", "Rigid behavior" and "Unpredictable and impulsive behavior". These scales were able to discriminate between individuals with or without ASD. The HAP can thus be used as a screening instrument for ASD symptoms in elderly patients. Further research is needed to clarify what items have the best predictive validity for ASD symptoms.
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- 2017
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14. Retinal dystrophies with bull’s-eye maculopathy along with negative ERGs
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Nasser, F., Kurtenbach, A., Kohl, S., Obermaier, C., Stingl, K., and Zrenner, E.
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- 2019
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15. A case of X-linked retinoschisis with atypical fundus appearance
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Nasser, F., Kohl, S., Kuehlewein, L., Wissinger, B., Obermaier, C. D., Kurtenbach, A., and Zrenner, E.
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- 2019
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16. Screening of Autism Spectrum Disorders in Older Adults
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Heijnen-Kohl, S. M. J., primary
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- 2020
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17. Science and Social Justice
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Gill, Kohl S.
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The author was born and raised in rural, northern Mississippi. He went to a local school, the North Pontotoc Attendance Center, from first grade on. The author was always interested in math and science, but, then, he was interested in most all subjects. The expected path that his friends and siblings had followed was clear: attend a junior college or maybe Mississippi State University; make use of the best that Mississippi had to offer; perhaps become a doctor or an engineer. The Mississippi School for Mathematics and Science (MSMS) came into his life at just the right time. The advertisements he saw on TV inspired him to apply, as much because it was free of charge as because of the great opportunity. He knew that he would get more and deeper science and math instruction at MSMS than at North Pontotoc, but he had no idea of the breadth of exposure to the world that the school offered. The whole approach of MSMS, the fact that they dispensed with the practice of ranking students against each other, the open and discursive style of discovery, and the residential atmosphere helped foster a type of collaborative problem-solving that stuck with him ever since. It's quite clear how formative and lasting the influence of MSMS has been, especially in revealing his twin missions in science and social justice. He doesn't know if he'll be able to repay Mississippi for that inspiration. He only hopes that his life in public service, as an ambassador from MSMS and the State of Mississippi, can somehow return the favor.
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- 2008
18. Reicht eine Nierenbiopsie im Zeitalter des „next generation sequencing“?
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Kohl, S.
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- 2020
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19. The Liver Tumor Segmentation Benchmark (LiTS).
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Bilic, P., Christ, P., Li, H.B., Vorontsov, E., Ben-Cohen, A., Kaissis, G., Szeskin, A., Jacobs, C., Mamani, G.E.H., Chartrand, G., Lohöfer, F., Holch, J.W., Sommer, W., Hofmann, F., Hostettler, A., Lev-Cohain, N., Drozdzal, M., Amitai, M.M., Vivanti, R., Sosna, J., Ezhov, I., Sekuboyina, A., Navarro, F., Kofler, F., Paetzold, J.C., Shit, S., Hu, Xiaobin, Lipková, J., Rempfler, M., Piraud, M., Kirschke, J., Wiestler, B., Zhang, Zhiheng, Hülsemeyer, C., Beetz, M., Ettlinger, F., Antonelli, M., Bae, W., Bellver, M., Bi, L., Chen, H., Chlebus, G., Dam, E.B., Dou, Qi, Fu, C.W., Georgescu, B., Giró-I-Nieto, X., Gruen, F., Han, X., Heng, P.A., Hesser, J., Moltz, J.H., Igel, C., Isensee, F., Jäger, P., Jia, F., Kaluva, K.C., Khened, M., Kim, I., Kim, J.H., Kim, S., Kohl, S., Konopczynski, T., Kori, A., Krishnamurthi, G., Li, F., Li, Hongchao, Li, J, Li, Xiaomeng, Lowengrub, J., Ma, J, Maier-Hein, K., Maninis, K.K., Meine, H., Merhof, D., Pai, A., Perslev, M., Petersen, J., Pont-Tuset, J., Qi, J., Qi, X., Rippel, O., Roth, K., Sarasua, I., Schenk, A., Shen, Z., Torres, J., Wachinger, C., Wang, Chunliang, Weninger, L., Wu, J., Xu, D., Yang, Xiaoping, Yu, SImon Chun-Ho, Yuan, Y., Yue, M., Zhang, L., Cardoso, J., Bakas, S., Braren, R., Heinemann, V., Pal, C., Tang, A., Kadoury, S., Soler, L., Ginneken, B. van, Greenspan, H., Joskowicz, L., Menze, B., Bilic, P., Christ, P., Li, H.B., Vorontsov, E., Ben-Cohen, A., Kaissis, G., Szeskin, A., Jacobs, C., Mamani, G.E.H., Chartrand, G., Lohöfer, F., Holch, J.W., Sommer, W., Hofmann, F., Hostettler, A., Lev-Cohain, N., Drozdzal, M., Amitai, M.M., Vivanti, R., Sosna, J., Ezhov, I., Sekuboyina, A., Navarro, F., Kofler, F., Paetzold, J.C., Shit, S., Hu, Xiaobin, Lipková, J., Rempfler, M., Piraud, M., Kirschke, J., Wiestler, B., Zhang, Zhiheng, Hülsemeyer, C., Beetz, M., Ettlinger, F., Antonelli, M., Bae, W., Bellver, M., Bi, L., Chen, H., Chlebus, G., Dam, E.B., Dou, Qi, Fu, C.W., Georgescu, B., Giró-I-Nieto, X., Gruen, F., Han, X., Heng, P.A., Hesser, J., Moltz, J.H., Igel, C., Isensee, F., Jäger, P., Jia, F., Kaluva, K.C., Khened, M., Kim, I., Kim, J.H., Kim, S., Kohl, S., Konopczynski, T., Kori, A., Krishnamurthi, G., Li, F., Li, Hongchao, Li, J, Li, Xiaomeng, Lowengrub, J., Ma, J, Maier-Hein, K., Maninis, K.K., Meine, H., Merhof, D., Pai, A., Perslev, M., Petersen, J., Pont-Tuset, J., Qi, J., Qi, X., Rippel, O., Roth, K., Sarasua, I., Schenk, A., Shen, Z., Torres, J., Wachinger, C., Wang, Chunliang, Weninger, L., Wu, J., Xu, D., Yang, Xiaoping, Yu, SImon Chun-Ho, Yuan, Y., Yue, M., Zhang, L., Cardoso, J., Bakas, S., Braren, R., Heinemann, V., Pal, C., Tang, A., Kadoury, S., Soler, L., Ginneken, B. van, Greenspan, H., Joskowicz, L., and Menze, B.
- Abstract
01 februari 2023, Item does not contain fulltext, In this work, we report the set-up and results of the Liver Tumor Segmentation Benchmark (LiTS), which was organized in conjunction with the IEEE International Symposium on Biomedical Imaging (ISBI) 2017 and the International Conferences on Medical Image Computing and Computer-Assisted Intervention (MICCAI) 2017 and 2018. The image dataset is diverse and contains primary and secondary tumors with varied sizes and appearances with various lesion-to-background levels (hyper-/hypo-dense), created in collaboration with seven hospitals and research institutions. Seventy-five submitted liver and liver tumor segmentation algorithms were trained on a set of 131 computed tomography (CT) volumes and were tested on 70 unseen test images acquired from different patients. We found that not a single algorithm performed best for both liver and liver tumors in the three events. The best liver segmentation algorithm achieved a Dice score of 0.963, whereas, for tumor segmentation, the best algorithms achieved Dices scores of 0.674 (ISBI 2017), 0.702 (MICCAI 2017), and 0.739 (MICCAI 2018). Retrospectively, we performed additional analysis on liver tumor detection and revealed that not all top-performing segmentation algorithms worked well for tumor detection. The best liver tumor detection method achieved a lesion-wise recall of 0.458 (ISBI 2017), 0.515 (MICCAI 2017), and 0.554 (MICCAI 2018), indicating the need for further research. LiTS remains an active benchmark and resource for research, e.g., contributing the liver-related segmentation tasks in http://medicaldecathlon.com/. In addition, both data and online evaluation are accessible via https://competitions.codalab.org/competitions/17094.
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- 2023
20. KCNV2-associated retinopathy:genotype-phenotype correlations-KCNV2 study group report 3
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de Guimaraes, TAC, Georgiou, M, Robson, AG, Fujinami, K, Vincent, A, Nasser, F, Khateb, S, Mahroo, OA, Pontikos, N, Vargas, ME, Thiadens, AAHJ, de Carvalho, ER, Nguyen, XTA, Arno, G, Fujinami-Yokokawa, Y, Liu, X, Tsunoda, K, Hayashi, T, Jimenez-Rolando, B, Martin-Merida, MI, Avila-Fernandez, A, Salas, EC, Garcia-Sandoval, B, Ayuso, C, Sharon, D, Kohl, S, Huckfeldt, RM, Banin, E, Pennesi, ME, Khan, AO, Wissinger, B, Webster, AR, Heon, E, Boon, CJF, Zrenner, E, Michaelides, M, de Guimaraes, TAC, Georgiou, M, Robson, AG, Fujinami, K, Vincent, A, Nasser, F, Khateb, S, Mahroo, OA, Pontikos, N, Vargas, ME, Thiadens, AAHJ, de Carvalho, ER, Nguyen, XTA, Arno, G, Fujinami-Yokokawa, Y, Liu, X, Tsunoda, K, Hayashi, T, Jimenez-Rolando, B, Martin-Merida, MI, Avila-Fernandez, A, Salas, EC, Garcia-Sandoval, B, Ayuso, C, Sharon, D, Kohl, S, Huckfeldt, RM, Banin, E, Pennesi, ME, Khan, AO, Wissinger, B, Webster, AR, Heon, E, Boon, CJF, Zrenner, E, and Michaelides, M
- Abstract
Background/aims To investigate genotype–phenotype associations in patients with KCNV2 retinopathy. Methods Review of clinical notes, best-corrected visual acuity (BCVA), molecular variants, electroretinography (ERG) and retinal imaging. Subjects were grouped according to the combination of KCNV2 variants—two loss-of-function (TLOF), two missense (TM) or one of each (MLOF)—and parameters were compared. Results Ninety-two patients were included. The mean age of onset (mean±SD) in TLOF (n=55), TM (n=23) and MLOF (n=14) groups was 3.51±0.58, 4.07±2.76 and 5.54±3.38 years, respectively. The mean LogMAR BCVA (±SD) at baseline in TLOF, TM and MLOF groups was 0.89±0.25, 0.67±0.38 and 0.81±0.35 for right, and 0.88±0.26, 0.69±0.33 and 0.78±0.33 for left eyes, respectively. The difference in BCVA between groups at baseline was significant in right (p=0.03) and left eyes (p=0.035). Mean outer nuclear layer thickness (±SD) at baseline in TLOF, MLOF and TM groups was 37.07±15.20 µm, 40.67±12.53 and 40.38±18.67, respectively, which was not significantly different (p=0.85). The mean ellipsoid zone width (EZW) loss (±SD) was 2051 µm (±1318) for patients in the TLOF, and 1314 µm (±965) for MLOF. Only one patient in the TM group had EZW loss at presentation. There was considerable overlap in ERG findings, although the largest DA 10 ERG b-waves were associated with TLOF and the smallest with TM variants. Conclusions Patients with missense alterations had better BCVA and greater structural integrity. This is important for patient prognostication and counselling, as well as stratification for future gene therapy trials.
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- 2023
21. Integrating early palliative care (EPC) in the management of lung cancer: The role of the thoracic oncologist
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Janssens, A., Teugels, L., Kohl, S., Michielsen, T., and van Meerbeeck, J.P.
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- 2015
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22. NetImmerse - Evaluating User Experience in Immersive Network Exploration
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Schroder, K., Kohl, S., Ajdadilish, B., Duffy, Vincent G., Marketing & Supply Chain Management, and RS: GSBE other - not theme-related research
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Immersive analytics ,Network visualization ,Virtual reality - Abstract
The increasing amount of interconnected data has given rise to a need among researchers and practitioners to develop new approaches to visualizing network structures. The intricacy of such structures vastly exceeds the capacity of most conventional approaches to network visualization in terms of dimensional and resolution restrictions, as they are mostly presented as two-dimensional with on a limited size screen. An additional limitation of traditional network visualization tools from a human-computer interaction standpoint is the limited interaction itself where immersion and "deep-diving" into high-dimensional data is not possible. We built NetImmerse, an application to visualize network data in a virtual environment with the ability to overview, zoom, and request details on-demand. Within the virtual space, users can either walk around the 3D data representation or rotate and move the representation using the two controllers. We tested the application with users and simulated a representative use case. NetImmerse enabled the participants to gain accurate insights based on the defined task. Participants indicated a PU of 5.25 and a PEOU of 5.46. We believe that NetImmerse is an engaging platform for multi-dimensional data exploration and may result in better insights and enhanced network data exploration.
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- 2022
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23. Interest rates and the spatial polarization of housing markets
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Amaral, F., Dohmen, M., Kohl, S., https://orcid.org/0000-0002-8358-6021, and Schularick, M.
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Houseprices ,300 Sozialwissenschaften::330 Wirtschaft::332 Finanzwirtschaft ,spatialpolarization ,300 Sozialwissenschaften::300 Sozialwissenschaften, Soziologie::300 Sozialwissenschaften ,300 Sozialwissenschaften::310 Statistiken::314 Allgemeine Statistiken zu Europa ,regionalhousingmarkets - Abstract
Rising within-country differences in house values are a much debated trend in the U.S. and internationally. Using new long-run regional data for 15 advanced economies, we first show that standard explanations linking growing price dispersion to rent dispersion are contradicted by an important stylized fact: rent dispersion has increased far less than price dispersion. We then propose a new explanation: a uniform decline in real risk-free interest rates can have heterogeneous spatial effects on house values. Falling real safe rates disproportionately push up prices in large agglomerations where initial rent-price ratios are low, leading to housing market polarization on the national level.
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- 2023
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24. An analysis-ready and quality controlled resource for pediatric brain white-matter research
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Richie-Halford, A., Cieslak, M., Ai, L., Caffarra, S., Covitz, S., Franco, A., Karipidis, I., Kruper, J., Milham, M., Avelar-Pereira, B., Roy, E., Sydnor, V., Yeatman, J., Abbott, N., Anderson, J., Gagana, B., Bleile, M., Bloomfield, P., Bottom, V., Bourque, J., Boyle, R., Brynildsen, J., Calarco, N., Castrellon, J., Chaku, N., Chen, B., Chopra, S., Coffey, E., Colenbier, N., Cox, D., Crippen, J., Crouse, J., David, S., Leener, B., Delap, G., Deng, Z., Dugre, J., Eklund, A., Ellis, K., Ered, A., Farmer, H., Faskowitz, J., Finch, J., Flandin, G., Flounders, M., Fonville, L., Frandsen, S., Garic, D., Garrido-Vásquez, P., Gonzalez-Escamilla, G., Grogans, S., Grotheer, M., Gruskin, D., Guberman, G., Haggerty, E., Hahn, Y., Hall, E., Hanson, J., Harel, Y., Vieira, B., Hettwer, M., Hobday, H., Horien, C., Huang, F., Huque, Z., James, A., Kahhale, I., Kamhout, S., Keller, A., Khera, H., Kiar, G., Kirk, P., Kohl, S., Korenic, S., Korponay, C., Kozlowski, A., Kraljevic, N., Lazari, A., Leavitt, M., Li, Z., Liberati, G., Lorenc, E., Lossin, A., Lotter, L., Lydon-Staley, D., Madan, C., Magielse, N., Marusak, H., Mayor, J., McGowan, A., Mehta, K., Meisler, S., Michael, C., Mitchell, M., Morand-Beaulieu, S., Newman, B., Nielsen, J., O’Mara, S., Ojha, A., Omary, A., Özarslan, E., Parkes, L., Peterson, M., Pines, A., Pisanu, C., Rich, R., Sahoo, A., Samara, A., Sayed, F., Schneider, J., Shaffer, L., Shatalina, E., Sims, S., Sinclair, S., Song, J., Hogrogian, G., Tooley, U., Tripathi, V., Turker, H., Valk, S., https://orcid.org/0000-0003-2998-6849, Wall, M., Walther, C., Wang, Y., Wegmann, B., Welton, T., Wiesman, A., Wiesman, M., Winters, D., Yuan, R., Zacharek, S., Zajner, C., Zakharov, I., Zammarchi, G., Zhou, D., Zimmerman, B., Zoner, K., Satterthwaite, T., Rokem, A., and Fibr Community Science Consortium
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Statistics and Probability ,Brain ,Neuroimaging ,Library and Information Sciences ,White Matter ,Computer Science Applications ,Education ,Diffusion Magnetic Resonance Imaging ,Image Processing, Computer-Assisted ,Humans ,Radiologi och bildbehandling ,Statistics, Probability and Uncertainty ,Child ,Information Systems ,Radiology, Nuclear Medicine and Medical Imaging - Abstract
We created a set of resources to enable research based on openly-available diffusion MRI (dMRI) data from the Healthy Brain Network (HBN) study. First, we curated the HBN dMRI data (N = 2747) into the Brain Imaging Data Structure and preprocessed it according to best-practices, including denoising and correcting for motion effects, susceptibility-related distortions, and eddy currents. Preprocessed, analysis-ready data was made openly available. Data quality plays a key role in the analysis of dMRI. To optimize QC and scale it to this large dataset, we trained a neural network through the combination of a small data subset scored by experts and a larger set scored by community scientists. The network performs QC highly concordant with that of experts on a held out set (ROC-AUC = 0.947). A further analysis of the neural network demonstrates that it relies on image features with relevance to QC. Altogether, this work both delivers resources to advance transdiagnostic research in brain connectivity and pediatric mental health, and establishes a novel paradigm for automated QC of large datasets., Scientific Data, 9 (1), ISSN:2052-4463
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- 2022
25. What can patients do to facilitate shared decision making? A qualitative study of patients with depression or schizophrenia and psychiatrists
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Hamann, Johannes, Kohl, S., McCabe, R., Bühner, M., Mendel, R., Albus, M., and Bernd, J.
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- 2016
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26. High failure rate of trochanteric fracture osteosynthesis with proximal femoral locking compression plate
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Wirtz, C., Abbassi, F., Evangelopoulos, D.S., Kohl, S., Siebenrock, K.A., and Krüger, A.
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- 2013
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27. Prepulse inhibition in psychiatric disorders – Apart from schizophrenia
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Kohl, S., Heekeren, K., Klosterkötter, J., and Kuhn, J.
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- 2013
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28. Osteotomy of the greater trochanter: effect on gluteus medius function
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Beck, Martin, Krüger, A., Katthagen, C., and Kohl, S.
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- 2015
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29. In Parkinson’s disease pallidal deep brain stimulation speeds up response initiation but has no effect on reactive inhibition
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Kohl, S., Aggeli, K., Obeso, I., Speekenbrink, M., Limousin, P., Kuhn, J., and Jahanshahi, M.
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- 2015
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30. Dynamic intraligamentary stabilization: novel technique for preserving the ruptured ACL
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Eggli, S., Kohlhof, H., Zumstein, M., Henle, P., Hartel, M., Evangelopoulos, D. S., Bonel, H., and Kohl, S.
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- 2015
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31. On Plasma Formation in CO2 Fusion Laser Cutting of Stainless Steel
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Sichani, E. Fallahi, Kohl, S., Schmidt, M., Kruth, J.-P., and Duflou, J.R.
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- 2012
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32. Clinical use of a new frameless optical neuronavigation system for brain biopsies: 10 cases (2013–2020)
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Gutmann, S., Tästensen, C., Böttcher, I.C., Dietzel, J., Loderstedt, S., Kohl, S., Matiasek, K., Flegel, T., Gutmann, S., Tästensen, C., Böttcher, I.C., Dietzel, J., Loderstedt, S., Kohl, S., Matiasek, K., and Flegel, T.
- Abstract
Objectives: The aim of the retrospective study was to describe the brain biopsy procedure using a new frameless optical neuronavigation system and to report diagnostic yield and complications associated with the procedure. Materials and Methods: The medical records for all dogs with forebrain lesions that underwent brain biopsy with a frameless optical neuronavigation system in a single referral hospital between 2013 and 2020 were retrospectively analysed. Following data were collected: signalment, neurological signs, diagnostic findings, number of brain biopsy samples, sampled region, complications, duration of hospitalisation, whether the samples were diagnostic and histopathological diagnoses. The device consists of a computer workstation with navigation software, an infrared camera, patient tracker and reflective instruments. The biopsy needle was equipped with reflective spheres, so the surgeon could see the position of the needle during sampling the intracranial lesion free handed through a mini-burr hole. Results: Ten dogs were included. Absolute diagnostic yield based on specific histopathological diagnosis was 73.9%. Three dogs had immune-mediated necrotizing encephalitis, two dogs showed a necrotizing leukoencephalitis and two dogs a meningoencephalitis of unknown origin. In two dogs, the brain specimen showed unspecific changes. In one dog, the samples were non-diagnostic. Seven dogs showed no neurological deterioration, one dog mild temporary ataxia and two dogs died within 36 hours post brain biopsy. Clinical Significance: In these 10 dogs, the frameless optical neuronavigation system employed was useful to gain diagnostic brain biopsy samples. Considering the mortality rate observed, further studies are needed to confirm the safety of this procedure and prove its actual clinical effectiveness.
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- 2022
33. Deep brain stimulation reduces conflict-related theta and error-related negativity in patients with obsessive-compulsive disorder
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Sildatke, E., Gründler, T.O.J., Ullsperger, M., Dembek, T.A., Baldermann, J.C., Kohl, S., Visser-Vandewalle, V.E.R.M., Huys, D., Kuhn, J., Schüller, T., Sildatke, E., Gründler, T.O.J., Ullsperger, M., Dembek, T.A., Baldermann, J.C., Kohl, S., Visser-Vandewalle, V.E.R.M., Huys, D., Kuhn, J., and Schüller, T.
- Abstract
Item does not contain fulltext, Objectives: Obsessive-compulsive disorder (OCD) is a psychiatric disorder with alterations of cortico-striato-thalamo-cortical loops and impaired performance monitoring. Electrophysiological markers such as conflict-related medial frontal theta (MFT) and error-related negativity (ERN) may be altered by clinically effective deep brain stimulation (DBS) of the anterior limb of the internal capsule and nucleus accumbens (ALIC/NAc). We hypothesized that ALIC/NAc DBS modulates electrophysiological performance monitoring markers. Materials and Methods: Fifteen patients (six male) with otherwise treatment-refractory OCD receiving ALIC/NAc DBS performed a flanker task with EEG recordings at three sessions: presurgery, and at follow-up with DBS on and off. We examined MFT, ERN, and task performance. Furthermore, we investigated interrelations with clinical efficacy and the explored the influence of the location of individual stimulation volumes on EEG modulations. Results: MFT and ERN were significantly attenuated by DBS with differences most pronounced between presurgery and DBS-on states. Also, we observed reaction time slowing for erroneous responses during DBS-off. Larger presurgery ERN amplitudes were associated with decreased clinical efficacy. Exploratory anatomical analyses suggested that stimulation volumes encompassing the NAc were associated with MFT modulation, whereas ALIC stimulation was associated with modulation of the ERN and clinical efficacy. Conclusion: ALIC/NAc DBS diminished MFT and ERN, demonstrating modulation of the medial frontal performance monitoring system in OCD. Furthermore, our findings encourage further studies to explore the ERN as a potential predictor for clinical efficacy.
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- 2022
34. Fifteen-year-old Girl with swollen and reddened Toes
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Kohl, S., Eifler, L., Kohl, S., and Eifler, L.
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- 2022
35. Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations
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Kohl, S., Avni, F.E., Boor, P., Capone, V., Clapp, W.L., Palma, D., Harris, T., Heidet, L., Hilger, A.C., Liapis, H., Lilien, M., Manzoni, G. de, Montini, G., Negrisolo, S., Pierrat, M.J., Raes, A., Reutter, H., Schreuder, M.F., Weber, S., Winyard, P.J., Woolf, A.S., Schaefer, F., Liebau, M.C., Kohl, S., Avni, F.E., Boor, P., Capone, V., Clapp, W.L., Palma, D., Harris, T., Heidet, L., Hilger, A.C., Liapis, H., Lilien, M., Manzoni, G. de, Montini, G., Negrisolo, S., Pierrat, M.J., Raes, A., Reutter, H., Schreuder, M.F., Weber, S., Winyard, P.J., Woolf, A.S., Schaefer, F., and Liebau, M.C.
- Abstract
Item does not contain fulltext, Kidney dysplasia is one of the most frequent causes of chronic kidney failure in children. While dysplasia is a histological diagnosis, the term 'kidney dysplasia' is frequently used in daily clinical life without histopathological confirmation. Clinical parameters of kidney dysplasia have not been clearly defined, leading to imprecise communication amongst healthcare professionals and patients. This lack of consensus hampers precise disease understanding and the development of specific therapies. Based on a structured literature search, we here suggest a common basis for clinical, imaging, genetic, pathological and basic science aspects of non-obstructive kidney dysplasia associated with functional kidney impairment. We propose to accept hallmark sonographic findings as surrogate parameters defining a clinical diagnosis of dysplastic kidneys. We suggest differentiated clinical follow-up plans for children with kidney dysplasia and summarize established monogenic causes for non-obstructive kidney dysplasia. Finally, we point out and discuss research gaps in the field.
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- 2022
36. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement
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Black G. C., Sergouniotis P., Sodi A., Leroy B. P., Van Cauwenbergh C., Liskova P., Gronskov K., Klett A., Kohl S., Taurina G., Sukys M., Haer-Wigman L., Nowomiejska K., Marques J. P., Leroux D., Cremers F. P. M., De Baere E., Dollfus H., Ashworth J., Audo I., Bacci G., Balciuniene V. J., Bargiacchi S., Bertelsen M., Black G., Boon C., Bremond-Gignac D., Buzzonetti L., Calvas P., Thomsen A. C., Chirita-Emandi A., Chokoshvili D., Cremers F., Daly A., Downes S., Fasolo A., Fasser C., Fischer D., Fortunato P., Gelzinis A., Hall G., Hamann S., Heon E., Iarossi G., Iberg C., Jouanjan G., Kaariainen H., Kahn K., Keegan D., Laengsfeld M., Leon A., Leroux B., Lorenz B., Maggi R., Mauring L., Melico P., Meunier I., Mohand-Said S., Monterosso C., Morandi P., Parmeggiani F., Passerini I., Pelletier V., Peluso F., Perdomo Y., Rapizzi E., Roos L., Roosing S., Rozet J. -M., Simonelli F., Sowden J., Stingl K., Suppiej A., Testa F., Tracewska A., Traficante G., Valeina S., Wheeler-Schilling T., Yu-Wai-Man P., Zeitz C., Zemaitiene R., Leroux, Dorothée [0000-0002-1412-6611], Apollo - University of Cambridge Repository, Ophthalmology, ANS - Complex Trait Genetics, Black, G. C., Sergouniotis, P., Sodi, A., Leroy, B. P., Van Cauwenbergh, C., Liskova, P., Gronskov, K., Klett, A., Kohl, S., Taurina, G., Sukys, M., Haer-Wigman, L., Nowomiejska, K., Marques, J. P., Leroux, D., Cremers, F. P. M., De Baere, E., Dollfus, H., Ashworth, J., Audo, I., Bacci, G., Balciuniene, V. J., Bargiacchi, S., Bertelsen, M., Black, G., Boon, C., Bremond-Gignac, D., Buzzonetti, L., Calvas, P., Thomsen, A. C., Chirita-Emandi, A., Chokoshvili, D., Cremers, F., Daly, A., Downes, S., Fasolo, A., Fasser, C., Fischer, D., Fortunato, P., Gelzinis, A., Hall, G., Hamann, S., Heon, E., Iarossi, G., Iberg, C., Jouanjan, G., Kaariainen, H., Kahn, K., Keegan, D., Laengsfeld, M., Leon, A., Leroux, B., Lorenz, B., Maggi, R., Mauring, L., Melico, P., Meunier, I., Mohand-Said, S., Monterosso, C., Morandi, P., Parmeggiani, F., Passerini, I., Pelletier, V., Peluso, F., Perdomo, Y., Rapizzi, E., Roos, L., Roosing, S., Rozet, J. -M., Simonelli, F., Sowden, J., Stingl, K., Suppiej, A., Testa, F., Tracewska, A., Traficante, G., Valeina, S., Wheeler-Schilling, T., Yu-Wai-Man, P., Zeitz, C., and Zemaitiene, R.
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0301 basic medicine ,Eye Diseases ,lcsh:Medicine ,CHILDREN ,Position statement ,Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] ,MOLECULAR-GENETICS ,0302 clinical medicine ,HISTORY ,Health care ,Medicine and Health Sciences ,Genetics(clinical) ,Pharmacology (medical) ,Child ,Genetics (clinical) ,medicine.diagnostic_test ,General Medicine ,Genomics ,Europe ,TRIALS ,ERN-EYE ,Rare eye diseases ,medicine.symptom ,Genetic and genomic testing ,Human ,medicine.medical_specialty ,Visual impairment ,LEBER CONGENITAL AMAUROSIS ,Socio-culturale ,DIAGNOSIS ,03 medical and health sciences ,Rare Diseases ,medicine ,Humans ,Genetic Testing ,Intensive care medicine ,Genetic testing ,business.industry ,CLINICAL-FEATURES ,lcsh:R ,Rare eye disease ,Eye Disease ,Human genetics ,Clinical trial ,030104 developmental biology ,Genomic ,030221 ophthalmology & optometry ,Personalized medicine ,business ,Rare disease - Abstract
Background Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. A significant number of patients with RED have an underlying genetic etiology. One of the aims of the European Reference Network for Rare Eye Diseases (ERN–EYE) is to facilitate improvement in diagnosis of RED in European member states. Main body Technological advances have allowed genetic and genomic testing for RED. The outcome of genetic testing allows better understanding of the condition and allows reproductive and therapeutic options. The increase of the number of clinical trials for RED has provided urgency for genetic testing in RED. A survey of countries participating in ERN-EYE demonstrated that the majority are able to access some forms of genomic testing. However, there is significant variability, particularly regarding testing as part of clinical service. Some countries have a well-delineated rare disease pathway and have a national plan for rare diseases combined or not with a national plan for genomics in medicine. In other countries, there is a well-established organization of genetic centres that offer reimbursed genomic testing of RED and other rare diseases. Clinicians often rely upon research-funded laboratories or private companies. Notably, some member states rely on cross-border testing by way of an academic research project. Consequently, many clinicians are either unable to access testing or are confronted with long turnaround times. Overall, while the cost of sequencing has dropped, the cumulative cost of a genomic testing service for populations remains considerable. Importantly, the majority of countries reported healthcare budgets that limit testing. Short conclusion Despite technological advances, critical gaps in genomic testing remain in Europe, especially in smaller countries where no formal genomic testing pathways exist. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure access. ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in RED.
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- 2021
37. Ozonized activated carbon as catalyst for MTBE-cleavage
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Nau, A., Kohl, S., Zanthoff, H.-W., Wiederhold, H., and Vogel, H.
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- 2011
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38. Clinical use of a new frameless optical neuronavigation system for brain biopsies: 10 cases (2013–2020)
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Gutmann, S., primary, Tästensen, C., additional, Böttcher, I. C., additional, Dietzel, J., additional, Loderstedt, S., additional, Kohl, S., additional, Matiasek, K., additional, and Flegel, T., additional
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- 2022
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39. 'My Home is an Asset Class': The Financialization of Housing in Europe
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Gabor, D. and Kohl, S.
- Abstract
Over the past decades, institutional landlords – from real estate companies like the German giant Vonovia to private equity companies like Blackstone, or pension funds like ABP, the Dutch pension fund for government and education employees – have minted EUR 40bn of Berlin’s houses into assets that they rent out. This is roughly double the combined value of London’s and Amsterdam's institutionally owned houses and it is a trend that has accelerated since the COVID19 pandemic. Europe’s residential real estate has become an attractive asset class for investors worldwide, supported by a range of government policies that are ostensibly aimed at homeowners: support for housing markets pushes up house prices and reduces affordability for citizens, whereas income support for rent-paying households ensures stable returns for investors. In response, citizens across Europe – from Berlin to Dublin and Madrid – have mobilized to pressure governments into taking action. From rent controls to better regulation or even expropriation of institutional landlords, the political tide seems to be turning against a decades-old phenomenon known as the financialization of housing. A mega-trend across housing markets everywhere, it can be understood as (1) the disproportionate growth of housing finance relative to the underlying housing economy or (2) the turn to Housing as an Asset Class (HAC), captured by the increasing for-profit and financial orientation of actors in housing markets, and encouraged in Europe by a broad range of European-level financial legislation. In this report, we explore the growing importance of institutional landlords such as Blackstone, focusing in particular on the mechanisms through which European legislation has accommodated their strategies to transform housing into asset classes. We use data to map the complex financial ecosystem behind private equity landlords. We then propose a set of reforms that would de-financialize housing for the public good. 1. Housing as an asset class - The age of the institutional landlord 2. Housing and mortgage markets in Europe 3. The financialization of housing 3.1 Housing as an Asset Class (HAC) in Institutional Portfolios 3.2 Securitization of housing loans 3.3 Private equity real estate (PERE) funds 3.4 Public equity: REITs in Spain and Ireland 3.4 Public equity: Listed Real Estate Companies 3.5 Institutional investors Insurance Companies 3.6 Pension funds 4. The contribution of EU policies to the financialization of housing 4.1 Insurance companies 4.2 Pension Funds 4.3 Credit institutions 4.4 Residential/RE funds 5. Recommendations for EU legislative action to slow down and tackle finacialization: A European housing framework 5.1 A Housing Upgrade in the Social Taxonomy to underpin mandatory disclosure and regulation of institutional landlords 5.2 The European Housing Fund 5.3 A Housing Red Flag Rule on new European-level regulatory initiatives References
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- 2022
40. The rise and fall of social housing? Housing decommodification in long-run perspective
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Kholodilin, K., Kohl, S., and Mueller, F.
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Sozialwohnungsbau ,housing tenure ,Wohlfahrtsstaat ,Wohneigentumsformen ,social housing ,ddc:300 ,welfare state - Abstract
The comparative study of housing decommodification lags behind classical welfare state research, while housing research itself is rich in homeownership studies but lacks comparative accounts of private and social rentals due to missing comparative data. Building on existing works and various primary sources, this study presents a new collection of up to forty-eight countries’ social housing shares in stock and new construction since the first housing laws around 1900. The interpolated benchmark time series generally describe the rise and fall of social housing across a residual, a socialist, and a Northern-European housing group. The decline was steeper than for the classical welfare state, but the degree of erosion was surprisingly small in some countries where public housing associations remained resilient. Within the broader housing welfare state, social housing correlates positively with rent regulation and allowances, but negatively with homeownership subsidies and liberal mortgage regulation. A multivariate analysis shows that social housing is rather explained by housing shortages and complementarities with rental and welfare policies than by typical welfare state theories (GDP, political parties). Generally, the paper shows that conventional housing typologies are difficult to defend over time and argues more generally for including housing decommodification in welfare state research. Die vergleichende Forschung zur Dekommodifizierung des Gutes Wohnen ist bisher von der klassischen Wohlfahrtsstaatsforschung vernachlässigt worden. Die Wohnungsforschung selbst ist wiederum reich an Studien zum Wohneigentum, aber vergleichende Darstellungen zu privaten und sozialen Mietwohnungen sind aufgrund fehlender komparativer Daten wenig erforscht. Aufbauend auf bestehenden Arbeiten und verschiedenen Primärquellen stellt diese Studie daher zunächst eine neue Datensammlung von bis zu 48 Ländern vor, die den Anteil der Sozialwohnungen an den Beständen und Neubauten seit den ersten Wohnungsbaugesetzen um 1900 erfasst. Die interpolierten Benchmark-Zeitreihen beschreiben im Allgemeinen den Aufstieg und Fall des sozialen Wohnungsbaus in einem residualen, sozialistischen und einem nordeuropäischen Wohnungsregime. Der Rückgang war steiler als beim klassischen Wohlfahrtsstaat, aber überraschend resilient in Ländern mit öffentlichen Wohnungsbaugesellschaften. Innerhalb des umfassenderen Wohnungswohlfahrtsstaates korreliert der soziale Wohnungsbau positiv mit der Regulierung von Mieten und Wohngeldzahlungen, aber negativ mit Wohneigentumssubventionen und liberalen Hypothekenregelungen. Eine multivariate Analyse zeigt, dass der soziale Wohnungsbau eher durch Wohnungsknappheit und funktionale Komplementarität mit Miet- und Sozialpolitik als mit typischen wohlfahrtsstaatlichen Faktoren (BIP, politische Parteien) erklärt wird. Generell zeigt der Beitrag, dass herkömmliche Wohnungstypologien im Laufe der Zeit nur schwer zu verteidigen sind, und plädiert dafür, die Dekommodifizierung von Wohnraum stärker in die Wohlfahrtsstaatsforschung einzubeziehen. Contents 1 Introduction 2 Social housing: What it is and how to measure it? 3 Descriptive results 4 Bivariate findings: Social housing and the broader housing welfare state 5 Multivariate: The determinants of social housing provision 6 Conclusion Appendix References
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- 2022
41. The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
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Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell-Sampol L, Catala J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, and Kohl S
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gene conversion ,BCM ,human visual pigment genes ,opsin gene deletion ,locus control region - Abstract
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor function and caused by mutations in the OPN1LW/OPN1MW gene cluster on Xq28. Here, we investigated the prevalence and the landscape of submicroscopic structural variants (SVs) at single-base resolution in BCM patients. We found that about one-third (n = 73) of the 213 molecularly confirmed BCM families carry an SV, most commonly deletions restricted to the OPN1LW/OPN1MW gene cluster. The structure and precise breakpoints of the SVs were resolved in all but one of the 73 families. Twenty-two families-all from the United States-showed the same SV, and we confirmed a common ancestry of this mutation. In total, 42 distinct SVs were identified, including 40 previously unreported SVs, thereby quadrupling the number of precisely mapped SVs underlying BCM. Notably, there was no "region of overlap" among these SVs. However, 90% of SVs encompass the upstream locus control region, an essential enhancer element. Its minimal functional extent based on deletion mapping in patients was refined to 358 bp. Breakpoint analyses suggest diverse mechanisms underlying SV formation as well as in one case the gene conversion-based exchange of a 142-bp deletion between opsin genes. Using parsimonious assumptions, we reconstructed the composition and copy number of the OPN1LW/OPN1MW gene cluster prior to the mutation event and found evidence that large gene arrays may be predisposed to the occurrence of SVs at this locus.
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- 2022
42. Context is Key: Mining Social Signals for Automatic Task Detection in Design Thinking Meetings
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Kohl, S., Graus, M., Lemmink, J.G.A.M., Soares, Marcelo M., Rosenzweig, Elizabeth, Marcus, Aaron, Marketing & Supply Chain Management, RS: GSBE other - not theme-related research, and SBE Administration Office
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SELECTION ,Context detection ,Social signals ,Predictive modeling - Abstract
Despite the importance of team communication for successful collaborative problem solving, automated solutions for teams are notably absent from the literature. One promising avenue of research has been the development and integration of speech-based technology for team meetings. However, these technologies often fall short of meeting the needs of the teams as they do not take meeting context into consideration. In this paper, we demonstrate the efficacy of context detection with data collected during real team meetings. By capturing and analyzing social signals of rotation in team dynamics, we can demonstrate that different stages of collaborative problem solving using the design thinking methodology differ in their dynamics. Using supervised machine learning, we successfully predict design thinking mode with an overall F1 score of 0.68 and a best-performing sub-class model of 0.94. We believe this to be an essential step towards improving speech-based technology that aims to assist teams during meetings. Making these automated systems context-aware will enable them to provide teams with relevant information, such as resources or guidance.
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- 2022
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43. Meeting the Challenge of Financing Water and Sanitation
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Paul Kohl, S. Medlar
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- 2011
44. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
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Perea-Romero, I., Gordo, G., Iancu, I.F., Del Pozo-Valero, M., Almoguera, B., Blanco-Kelly, F., Carreño, E., Jimenez-Rolando, B., Lopez-Rodriguez, R., Lorda-Sanchez, I., Martin-Merida, I., Pérez de Ayala, L., Riveiro-Alvarez, R., Rodriguez-Pinilla, E., Tahsin-Swafiri, S., Trujillo-Tiebas, M.J., Bustamante-Aragones, A., Cardero-Merlo, R., Fernandez-Sanchez, R., Gallego-Merlo, J., Garcia-Vara, I., Gimenez-Pardo, A., Horcajada-Burgos, L., Infantes-Barbero, F., Lantero, E., Lopez-Martinez, M.A., Martinez-Ramas, A., Ondo, L., Rodriguez de Alba, M., Sanchez-Jimeno, C., Velez-Monsalve, C., Villaverde, C., Zurita, O., Aguilera-Garcia, D., Aguirre-Lamban, J., Arteche, A., Cantalapiedra, D., Fernandez-San Jose, P., Galbis-Martinez, L., Garcia-Hoyos, M., Lombardia, C., Lopez-Molina, M.I., Perez-Carro, R., Da Silva, L.R.J., Ramos, C., Sanchez-Alcudia, R., Sanchez-Navarro, I., Tatu, S.D., Vallespin, E., Aller, E., Bernal, S., Gamundi, M.J., Garcia-Garcia, G., Hernan, I., Jaijo, T., Antiñolo, G., Baiget, M., Carballo, M., Millan, J.M., Valverde, D., Allikmets, R., Banfi, S., Cremers, F.P.M., Collin, R.W.J., De Baere, E., Hakonarson, H., Kohl, S., Rivolta, C., Sharon, D., Alonso-Cerezo, M.C., Ballesta-Martinez, M.J., Beltran, S., Benito Lopez, C., Català-Mora, J., Catalli, C., Cotarelo-Perez, C., Fernandez-Burriel, M., Fontalba-Romero, A., Galán-Gómez, E., Garcia-Barcina, M., Garcia-Cruz, L.M., Gener, B., Gil-Fournier, B., Govea, N., Guillen-Navarro, E., Hernando Acero, I., Irigoyen, C., Izquierdo-Álvarez, S., Llano-Rivas, I., López-Ariztegui, M.A., Lopez-Gonzalez, V., Lopez-Grondona, F., Martorell, L., Mendez-Perez, P., Moreno-Igoa, M., Oancea-Ionescu, R., Palau-Martinez, F., Perez de Nanclares, G., Ramos-Fuentes, F.J., Rodriguez-Lopez, R., Rodriguez-Pedreira, M., Rodriguez-Peña, L., Rodriguez-Sanchez, B., Rosell, J., Rosello, N., Saez-Villaverde, R., Santana, A., Valenzuela-Palafoll, I., Villota-Deleu, E., Garcia-Sandoval, B., Minguez, P., Avila-Fernandez, A., Corton, M., Ayuso, C., Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo (España), Centro de Investigación Biomédica en Red Enfermedades Raras (España), Comunidad de Madrid, European Commission, ONCE, Fundación Ramón Areces, Fundación Conchita Rábago de Jiménez Díaz, UAM. Departamento de Medicina, Perea-Romero, I., Gordo, G., Iancu, I. F., Del Pozo-Valero, M., Almoguera, B., Blanco-Kelly, F., Carreno, E., Jimenez-Rolando, B., Lopez-Rodriguez, R., Lorda-Sanchez, I., Martin-Merida, I., Perez de Ayala, L., Riveiro-Alvarez, R., Rodriguez-Pinilla, E., Tahsin-Swafiri, S., Trujillo-Tiebas, M. J., Bustamante-Aragones, A., Cardero-Merlo, R., Fernandez-Sanchez, R., Gallego-Merlo, J., Garcia-Vara, I., Gimenez-Pardo, A., Horcajada-Burgos, L., Infantes-Barbero, F., Lantero, E., Lopez-Martinez, M. A., Martinez-Ramas, A., Ondo, L., Rodriguez de Alba, M., Sanchez-Jimeno, C., Velez-Monsalve, C., Villaverde, C., Zurita, O., Aguilera-Garcia, D., Aguirre-Lamban, J., Arteche, A., Cantalapiedra, D., Fernandez-San Jose, P., Galbis-Martinez, L., Garcia-Hoyos, M., Lombardia, C., Lopez-Molina, M. I., Perez-Carro, R., Da Silva, L. R. J., Ramos, C., Sanchez-Alcudia, R., Sanchez-Navarro, I., Tatu, S. D., Vallespin, E., Aller, E., Bernal, S., Gamundi, M. J., Garcia-Garcia, G., Hernan, I., Jaijo, T., Antinolo, G., Baiget, M., Carballo, M., Millan, J. M., Valverde, D., Allikmets, R., Banfi, S., Cremers, F. P. M., Collin, R. W. J., De Baere, E., Hakonarson, H., Kohl, S., Rivolta, C., Sharon, D., Alonso-Cerezo, M. C., Ballesta-Martinez, M. J., Beltran, S., Benito Lopez, C., Catala-Mora, J., Catalli, C., Cotarelo-Perez, C., Fernandez-Burriel, M., Fontalba-Romero, A., Galan-Gomez, E., Garcia-Barcina, M., Garcia-Cruz, L. M., Gener, B., Gil-Fournier, B., Govea, N., Guillen-Navarro, E., Hernando Acero, I., Irigoyen, C., Izquierdo-Alvarez, S., Llano-Rivas, I., Lopez-Ariztegui, M. A., Lopez-Gonzalez, V., Lopez-Grondona, F., Martorell, L., Mendez-Perez, P., Moreno-Igoa, M., Oancea-Ionescu, R., Palau-Martinez, F., Perez de Nanclares, G., Ramos-Fuentes, F. J., Rodriguez-Lopez, R., Rodriguez-Pedreira, M., Rodriguez-Pena, L., Rodriguez-Sanchez, B., Rosell, J., Rosello, N., Saez-Villaverde, R., Santana, A., Valenzuela-Palafoll, I., Villota-Deleu, E., Garcia-Sandoval, B., Minguez, P., Avila-Fernandez, A., Corton, M., and Ayuso, C.
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Male ,0301 basic medicine ,Peripherins ,ABCA4 ,Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] ,Cohort Studies ,0302 clinical medicine ,Epidemiology ,Genetics research ,Prevalence ,Genetics ,Extracellular Matrix Proteins ,Multidisciplinary ,medicine.diagnostic_test ,biology ,Molecular medicine ,pedigree ,genetic screening ,Middle Aged ,Phenotype ,Myosin VIIa ,Cohort ,Medicine ,Female ,Adult ,medicine.medical_specialty ,MYO7A ,Medicina ,Science ,Article ,03 medical and health sciences ,retinitis pigmentosa ,Retinal Dystrophies ,Retinitis pigmentosa ,medicine ,Humans ,Genetic Testing ,Clinical genetics ,Eye Proteins ,Author Correction ,Gene ,Aged ,Retrospective Studies ,Genetic testing ,Hereditary eye disease ,DNA ,medicine.disease ,Cross-Sectional Studies ,030104 developmental biology ,retina dystrophy ,Spain ,030221 ophthalmology & optometry ,biology.protein ,ATP-Binding Cassette Transporters ,mutation - Abstract
ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group., Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations., This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006).
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- 2021
45. REVIEW OF SCHODT, NATIVE AMERICAN IN THE LAND OF SHOGUN
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KOHL, S. W.
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- 2004
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46. The Role of Antibody in Herpes Simplex Virus Infection in Humans
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Kohl, S., Compans, R. W., editor, Cooper, M., editor, Koprowski, H., editor, McConnell, I., editor, Melchers, F., editor, Nussenzweig, V., editor, Oldstone, M., editor, Olsnes, S., editor, Potter, M., editor, Saedler, H., editor, Vogt, P. K., editor, Wagner, H., editor, Wilson, I., editor, and Rouse, Barry T., editor
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- 1992
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47. V01 CT-gestützter Vergleich der kranialen Migration von Kontrastmittel im Epiduralraum bei Katzen nach lumbosakraler und sakrokokzygealer Applikation
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Paul, F, additional, Kohl, S, additional, Kiefer, I, additional, and Alef, M, additional
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- 2021
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48. [Rezension] Zauberformel Wettbewerb und Innovation: Aghion, Philippe; Antonin, Céline; Bunel, Simon (eds.): Le pouvoir de la destruction créatrice: Innovation, croissance et avenir du capitalisme (Paris: Odile Jacob, 2020)
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Kohl, S.
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- 2021
49. Erbliche Ionenkanalerkrankungen der Netzhaut
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Reuter, P., Kohl, S., Bernd, A., and Wissinger, B.
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- 2013
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50. Der Mittelstand als Retter des demokratischen Kapitalismus?
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Ergen, T. and Kohl, S.
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Kleine und mittelgroße Unternehmen gelten als agiler, menschlicher und rundherum sauberer als ihre größeren Pendants – und ihre Unterstützung somit als breit akzeptiertes Allheilmittel für die Lösung spätkapitalistischer gesellschaftlicher Probleme. Mit der Realität hat das allerdings nicht viel zu tun.
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- 2021
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