Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

por Nguyen, Thanh-Minh T, Hull, Sarah, Roepman, Ronald, van den Born, L Ingeborgh, Oud, Machteld M, de Vrieze, Erik, Hetterschijt, Lisette, Letteboer, Stef J F, van Beersum, Sylvia E C, Blokland, Ellen A, Yntema, Helger G, Cremers, Frans P M, van der Zwaag, Paul A, Arno, Gavin, van Wijk, Erwin, Webster, Andrew R, Haer-Wigman, Lonneke
Publicado 2017

Accurate quantification of chromosomal lesions via short tandem repeat analysis using minimal amounts of DNA

por Jann, Johann-Christoph, Nowak, Daniel, Nolte, Florian, Fey, Stephanie, Nowak, Verena, Obländer, Julia, Pressler, Jovita, Palme, Iris, Xanthopoulos, Christina, Fabarius, Alice, Platzbecker, Uwe, Giagounidis, Aristoteles, Götze, Katharina, Letsch, Anne, Haase, Detlef, Schlenk, Richard, Bug, Gesine, Lübbert, Michael, Ganser, Arnold, Germing, Ulrich, Haferlach, Claudia, Hofmann, Wolf-Karsten, Mossner, Maximilian
Publicado 2017