Výsledky vyhledávání - Astuti, Galuh

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family Autor Siemiatkowska, Anna M., Astuti, Galuh D.N., Arimadyo, Kentar, den Hollander, Anneke I., Faradz, Sultana M.H., Cremers, Frans P.M., Collin, Rob W.J.

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Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark Autor Astuti, Galuh D N, Bertelsen, Mette, Preising, Markus N, Ajmal, Muhammad, Lorenz, Birgit, Faradz, Sultana M H, Qamar, Raheel, Collin, Rob W J, Rosenberg, Thomas, Cremers, Frans P M

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Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy Autor Astuti, Galuh D N, Sun, Vincent, Bauwens, Miriam, Zobor, Ditta, Leroy, Bart P, Omar, Amer, Jurklies, Bernhard, Lopez, Irma, Ren, Huanan, Yazar, Volkan, Hamel, Christian, Kellner, Ulrich, Wissinger, Bernd, Kohl, Susanne, De Baere, Elfride, Collin, Rob W J, Koenekoop, Robert K

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Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping Autor Siemiatkowska, Anna M., Arimadyo, Kentar, Moruz, Luminita M., Astuti, Galuh D.N., de Castro-Miro, Marta, Zonneveld, Marijke N., Strom, Tim M., de Wijs, Ilse J., Hoefsloot, Lies H., Faradz, Sultana M.H., Cremers, Frans P.M., den Hollander, Anneke I., Collin, Rob W.J.

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Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes Autor Astuti, Galuh D. N., van den Born, L. Ingeborgh, Khan, M. Imran, Hamel, Christian P., Bocquet, Béatrice, Manes, Gaël, Quinodoz, Mathieu, Ali, Manir, Toomes, Carmel, McKibbin, Martin, El-Asrag, Mohammed E., Haer-Wigman, Lonneke, Inglehearn, Chris F., Black, Graeme C. M., Hoyng, Carel B., Cremers, Frans P. M., Roosing, Susanne

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Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases Autor Fadaie, Zeinab, Whelan, Laura, Ben-Yosef, Tamar, Dockery, Adrian, Corradi, Zelia, Gilissen, Christian, Haer-Wigman, Lonneke, Corominas, Jordi, Astuti, Galuh D. N., de Rooij, Laura, van den Born, L. Ingeborgh, Klaver, Caroline C. W., Hoyng, Carel B., Wynne, Niamh, Duignan, Emma S., Kenna, Paul F., Cremers, Frans P. M., Farrar, G. Jane, Roosing, Susanne

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Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma Autor Pierrache, Laurence H.M., Kimchi, Adva, Ratnapriya, Rinki, Roberts, Lisa, Astuti, Galuh D.N., Obolensky, Alexey, Beryozkin, Avigail, Tjon-Fo-Sang, Martha J.H., Schuil, Jose, Klaver, Caroline C.W., Bongers, Ernie M.H.F., Haer-Wigman, Lonneke, Schalij, Nicoline, Breuning, Martijn H., Fischer, Gratia M., Banin, Eyal, Ramesar, Raj S., Swaroop, Anand, van den Born, L. Ingeborgh, Sharon, Dror, Cremers, Frans P.M.

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Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant Autor Reurink, Janine, de Vrieze, Erik, Li, Catherina H. Z., van Berkel, Emma, Broekman, Sanne, Aben, Marco, Peters, Theo, Oostrik, Jaap, Neveling, Kornelia, Venselaar, Hanka, Ramos, Mariana Guimarães, Gilissen, Christian, Astuti, Galuh D. N., Galbany, Jordi Corominas, van Lith-Verhoeven, Janneke J. C., Ockeloen, Charlotte W., Haer-Wigman, Lonneke, Hoyng, Carel B., Cremers, Frans P. M., Kremer, Hannie, Roosing, Susanne, van Wijk, Erwin

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Presence of Genetic Variants Among Young Men With Severe COVID-19 Autor van der Made, Caspar I., Simons, Annet, Schuurs-Hoeijmakers, Janneke, van den Heuvel, Guus, Mantere, Tuomo, Kersten, Simone, van Deuren, Rosanne C., Steehouwer, Marloes, van Reijmersdal, Simon V., Jaeger, Martin, Hofste, Tom, Astuti, Galuh, Corominas Galbany, Jordi, van der Schoot, Vyne, van der Hoeven, Hans, Hagmolen of ten Have, Wanda, Klijn, Eva, van den Meer, Catrien, Fiddelaers, Jeroen, de Mast, Quirijn, Bleeker-Rovers, Chantal P., Joosten, Leo A. B., Yntema, Helger G., Gilissen, Christian, Nelen, Marcel, van der Meer, Jos W. M., Brunner, Han G., Netea, Mihai G., van de Veerdonk, Frank L., Hoischen, Alexander

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