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

par Glaus, Esther, Schmid, Fabian, Da Costa, Romain, Berger, Wolfgang, Neidhardt, John
Publié 2011

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

par Tiwari, Amit, Lemke, Johannes, Altmueller, Janine, Thiele, Holger, Glaus, Esther, Fleischhauer, Johannes, Nürnberg, Peter, Neidhardt, John, Berger, Wolfgang
Publié dans PLoS One (2016)

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

par 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
Publié 2008