المؤلفون: Binder, Anastasia, Kohl, Susanne, Grasshoff, Ute, Schäferhoff, Karin, Stingl, Katarina^{Aff4, Aff5, IDs1063302309940z_cor5}

المصدر: Documenta Ophthalmologica: The Journal of Clinical Electrophysiology and Vision - The Official Journal of the International Society for Clinical Electrophysiology and Vision. 147(3):203-209

المؤلفون: Langhammer, Franziska, Maroofian, Reza, Badar, Rueda, Gregor, Anne, Rochman, Michelle, Ratliff, Jeffrey B., Koopmans, Marije, Herget, Theresia, Hempel, Maja, Kortüm, Fanny, Heron, Delphine, Mignot, Cyril, Keren, Boris, Brooks, Susan, Botti, Christina, Ben-Zeev, Bruria, Argilli, Emanuela, Sherr, Elliot H., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Bakhtiari, Somayeh, Kruer, Michael C., Salih, Mustafa A., Kuechler, Alma, Muller, Eric A., Blocker, Karli, Kuismin, Outi, Park, Kristen L., Kochhar, Aaina, Brown, Kathleen, Ramanathan, Subhadra, Clark, Robin D., Elgizouli, Magdeldin, Melikishvili, Gia, Tabatadze, Nazhi, Stark, Zornitza, Mirzaa, Ghayda M., Ong, Jinfon, Grasshoff, Ute, Bevot, Andrea, von Wintzingerode, Lydia, Jamra, Rami A., Hennig, Yvonne, Goldenberg, Paula, Al Alam, Chadi, Charif, Majida, Boulouiz, Redouane, Bellaoui, Mohammed, Amrani, Rim, Al Mutairi, Fuad, Tamim, Abdullah M., Abdulwahab, Firdous, Alkuraya, Fowzan S., Khouj, Ebtissal M., Alvi, Javeria R., Sultan, Tipu, Hashemi, Narges, Karimiani, Ehsan G., Ashrafzadeh, Farah, Imannezhad, Shima, Efthymiou, Stephanie, Houlden, Henry, Sticht, Heinrich, Zweier, Christiane

المصدر: In Genetics in Medicine August 2023 25(8)

المؤلفون: Ramond, Francis, Dalgliesh, Caroline, Grimmel, Mona, Wechsberg, Oded, Vetro, Annalisa, Guerrini, Renzo, FitzPatrick, David, Poole, Rebecca L., Lebrun, Marine, Bayat, Allan, Grasshoff, Ute, Bertrand, Miriam, Witt, Dennis, Turnpenny, Peter D., Faundes, Víctor, Santa María, Lorena, Mendoza Fuentes, Carolina, Mabe, Paulina, Hussain, Shaun A., Mullegama, Sureni V., Torti, Erin, Oehl-Jaschkowitz, Barbara, Salmon, Lina Basel, Orenstein, Naama, Shahar, Noa Ruhrman, Hagari, Ofir, Bazak, Lily, Hoffjan, Sabine, Prada, Carlos E., Haack, Tobias, Elliott, David J.

المصدر: In Genetics in Medicine April 2023 25(4)

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Alternate Title: Ein atypisch milder Phänotyp einer autosomal-rezessiven RPE65-assoziierten Retinitis pigmentosa. (German)

المؤلفون: Merle, David Adrian, Kohl, Susanne, Reith, Milda, Schäferhoff, Karin, Zuleger, Theresia, Stühn, Lara, Stingl, Krunoslav, Kempf, Melanie, Kühlewein, Laura, Grasshoff, Ute, Stingl, Katarina

المصدر: Klinische Monatsblätter für Augenheilkunde; Mar2024, Vol. 241 Issue 3, p266-271, 6p

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المؤلفون: Frints, Suzanna G. M.^{Aff1, Aff2}, Ozanturk, Aysegul, Rodríguez Criado, Germán, Grasshoff, Ute, de Hoon, Bas^{Aff6, Aff7}, Field, Michael, Manouvrier-Hanu, Sylvie^{Aff9, Aff10}, E. Hickey, Scott^{Aff11, Aff12}, Kammoun, Molka, Gripp, Karen W., Bauer, Claudia, Schroeder, Christopher, Toutain, Annick^{Aff15, Aff16}, Mihalic Mosher, Theresa^{Aff11, Aff12, Aff17}, Kelly, Benjamin J., White, Peter^{Aff12, Aff17}, Dufke, Andreas, Rentmeester, Eveline, Moon, Sungjin, Koboldt, Daniel C^{Aff12, Aff17}, van Roozendaal, Kees E. P.^{Aff1, Aff2}, Hu, Hao, Haas, Stefan A., Ropers, Hans-Hilger, Murray, Lucinda, Haan, Eric^{Aff20, Aff21}, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Liebelt, Jan, Hobson, Lynne, De Rademaeker, Marjan, Geraedts, Joep^{Aff1, Aff2}, Fryns, Jean-Pierre, Vermeesch, Joris, Raynaud, Martine^{Aff15, Aff16}, Riess, Olaf, Gribnau, Joost, Katsanis, Nicholas, Devriendt, Koen, Bauer, Peter, Gecz, Jozef^{Aff20, Aff24}, Golzio, Christelle^{Aff3, Aff25}, Gontan, Cristina, Kalscheuer, Vera M.^Aff26

المصدر: Molecular Psychiatry. 24(11):1748-1768

المؤلفون: Albuainain, Fatimah, Shi, Yuwei, Lor-Zade, Sarah, Hüffmeier, Ulrike, Pauly, Melissa, Reis, André, Faivre, Laurence, Maraval, Julien, Bruel, Ange-Line, Them, Frédéric Tran Mau, Haack, Tobias B., Grasshoff, Ute, Horber, Veronka, Schot, Rachel, van Slegtenhorst, Marjon, Wilke, Martina, Barakat, Tahsin Stefan

المصدر: European Journal of Human Genetics: EJHG; March 2024, Vol. 32 Issue: 3 p350-356, 7p

المؤلفون: Spiegler, Stefanie, Najm, Juliane, Liu, Jian, Gkalympoudis, Stephanie, Schröder, Winnie, Borck, Guntram, Brockmann, Knut, Elbracht, Miriam, Fauth, Christine, Ferbert, Andreas, Freudenberg, Leonie, Grasshoff, Ute, Hellenbroich, Yorck, Henn, Wolfram, Hoffjan, Sabine, Hüning, Irina, Korenke, G Christoph, Kroisel, Peter M, Kunstmann, Erdmute, Mair, Martina, Munk-Schulenburg, Susanne, Nikoubashman, Omid, Pauli, Silke, Rudnik-Schöneborn, Sabine, Sudholt, Irene, Sure, Ulrich, Tinschert, Sigrid, Wiednig, Michaela, Zoll, Barbara, Ginsberg, Mark H, Felbor, Ute

المصدر: Molecular Genetics & Genomic Medicine. 2(2)

مصطلحات موضوعية: Stroke, Genetic Testing, Neurosciences, Rare Diseases, Brain Disorders, Clinical Research, Genetics, 2.1 Biological and endogenous factors, Aetiology, Age at disease onset, CCM1, CCM2, CCM3, cerebral cavernous malformation, HEG1, mutation detection rate, predictive testing, Medicinal and Biomolecular Chemistry, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7rx4b2j9