Kết quả tìm kiếm - Thoenes, Michaela

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration Bằng Abdel-Salam, Ghada, Thoenes, Michaela, Afifi, Hanan H, Körber, Friederike, Swan, Daniel, Bolz, Hanno Jörn

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Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation Bằng Zaki, Maha, Thoenes, Michaela, Kawalia, Amit, Nürnberg, Peter, Kaiser, Rolf, Heller, Raoul, Bolz, Hanno J.

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Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts Bằng Ahmad, Adeel, Daud, Shakeela, Kakar, Naseebullah, Nürnberg, Gudrun, Nürnberg, Peter, Babar, Masroor Ellahi, Thoenes, Michaela, Kubisch, Christian, Ahmad, Jamil, Bolz, Hanno Jörn

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Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations Bằng Elsayed, Solaf M, Heller, Raoul, Thoenes, Michaela, Zaki, Maha S, Swan, Daniel, Elsobky, Ezzat, Zühlke, Christine, Ebermann, Inga, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J

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OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67) Bằng Thoenes, Michaela, Zimmermann, Ulrike, Ebermann, Inga, Ptok, Martin, Lewis, Morag A, Thiele, Holger, Morlot, Susanne, Hess, Markus M, Gal, Andreas, Eisenberger, Tobias, Bergmann, Carsten, Nürnberg, Gudrun, Nürnberg, Peter, Steel, Karen P, Knipper, Marlies, Bolz, Hanno Jörn

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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene Bằng Elsayed, Solaf M., Phillips, Jennifer B., Heller, Raoul, Thoenes, Michaela, Elsobky, Ezzat, Nürnberg, Gudrun, Nürnberg, Peter, Seland, Saskia, Ebermann, Inga, Altmüller, Janine, Thiele, Holger, Toliat, Mohammad, Körber, Friederike, Hu, Xue-Jia, Wu, Yun-Dong, Zaki, Maha S., Abdel-Salam, Ghada, Gleeson, Joseph, Boltshauser, Eugen, Westerfield, Monte, Bolz, Hanno J.

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Mutation of POC1B in a severe syndromic retinal ciliopathy Bằng Beck, Bodo B., Phillips, Jennifer B., Bartram, Malte P., Wegner, Jeremy, Thoenes, Michaela, Pannes, Andrea, Sampson, Josephina, Heller, Raoul, Göbel, Heike, Koerber, Friederike, Neugebauer, Antje, Hedergott, Andrea, Nürnberg, Gudrun, Nürnberg, Peter, Thiele, Holger, Altmüller, Janine, Toliat, Mohammad R., Staubach, Simon, Boycott, Kym M., Valente, Enza Maria, Janecke, Andreas R., Eisenberger, Tobias, Bergmann, Carsten, Tebbe, Lars, Wang, Yang, Wu, Yundong, Fry, Andrew M., Westerfield, Monte, Wolfrum, Uwe, Bolz, Hanno J.

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