Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells

著者: Glaus, Esther, Schmid, Fabian, Da Costa, Romain, Berger, Wolfgang, Neidhardt, John
出版事項 2011

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

著者: Tiwari, Amit, Lemke, Johannes, Altmueller, Janine, Thiele, Holger, Glaus, Esther, Fleischhauer, Johannes, Nürnberg, Peter, Neidhardt, John, Berger, Wolfgang
出版年 PLoS One (2016)

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing

著者: Neidhardt, John, Glaus, Esther, Lorenz, Birgit, Netzer, Christian, Li, Yün, Schambeck, Maria, Wittmer, Mariana, Feil, Silke, Kirschner-Schwabe, Renate, Rosenberg, Thomas, Cremers, Frans P.M., Bergen, Arthur A.B., Barthelmes, Daniel, Baraki, Husnia, Schmid, Fabian, Tanner, Gaby, Fleischhauer, Johannes, Orth, Ulrike, Becker, Christian, Wegscheider, Erika, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno Jörn, Gal, Andreas, Berger, Wolfgang
出版事項 2008