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Number of items: 7.

Kloeckener-Gruissem, Barbara; Dours-Zimmermann, Maria T; Skosyrski, Sergej; Brunner, Sandra; Mjaatvedt, Corey H; Zimmermann, Dieter R; Rüther, Klaus; Berger, Wolfgang (2016). A potential mouse model for the erosive vitreoretinopathy of Wagner disease. Matters:20160500004.

Thijssen, Peter E; Ito, Yuya; Grillo, Giacomo; Wang, Jun; Velasco, Guillaume; Nitta, Hirohisa; Unoki, Motoko; Yoshihara, Minako; Suyama, Mikita; Sun, Yu; Lemmers, Richard J L F; de Greef, Jessica C; Gennery, Andrew; Picco, Paolo; Kloeckener-Gruissem, Barbara; Güngör, Tayfun; Reisli, Ismail; Picard, Capucine; Kebaili, Kamila; Roquelaure, Bertrand; Iwai, Tsuyako; Kondo, Ikuko; Kubota, Takeo; van Ostaijen-Ten Dam, Monique M; van Tol, Maarten J D; Weemaes, Corry; Francastel, Claire; van der Maarel, Silvère M; Sasaki, Hiroyuki (2016). Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. Nature Communications, 7:12003.

Dhayat, Nasser; Simonin, Alexandre; Anderegg, Manuel; Pathare, Ganesh; Lüscher, Benjamin; Deisl, Christine; Albano, Giuseppe; Mordasini, David; Hediger, Matthias A; Surbek, Daniel; Vogt, Bruno; Sass, Jörn Oliver; Kloeckener-Gruissem, Barbara; Fuster, Daniel G (2016). Mutation in the monocarboxylate transporter 12 gene affects guanidinoacetate excretion but does not cause glucosuria. Journal of the American Society of Nephrology (JASN), 27(5):1426-1436.

Da Costa, Romain; Glaus, Esther; Tiwari, Amit; Kloeckener-Gruissem, Barbara; Berger, Wolfgang; Neidhardt, John (2015). Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations. Gene Therapy, 22(5):413-420.

Thijssen, Peter E; Ito, Yuya; Grillo, Giacomo; Wang, Jun; Velasco, Guillaume; Nitta, Hirohisa; Unoki, Motoko; Yoshihara, Minako; Suyama, Mikita; Sun, Yu; Lemmers, Richard J L F; de Greef, Jessica C; Gennery, Andrew; Picco, Paolo; Kloeckener-Gruissem, Barbara; Güngör, Tayfun; Reisli, Ismail; Picard, Capucine; Kebaili, Kamila; Roquelaure, Bertrand; Iwai, Tsuyako; Kondo, Ikuko; Kubota, Takeo; van Ostaijen-Ten Dam, Monique M; van Tol, Maarten J D; Weemaes, Corry; Francastel, Claire; van der Maarel, Silvère M; Sasaki, Hiroyuki (2015). Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome. Nature Communications, 6:7870.

Abplanalp, Jeanette; Laczko, Endre; Philip, Nancy J; Neidhardt, John; Zuercher, Jurian; Braun, Philipp; Schorderet, Daniel F; Munier, Francis L; Verrey, François; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2013). The cataract and Glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Human Molecular Genetics, 22(16):3218-3226.

Menghini, Moreno; Kloeckener-Gruissem, Barbara; Fleischhauer, Johannes; Kurz-Levin, Malaika M; Sutter, Florian K P; Berger, Wolfgang; Barthelmes, Daniel (2012). Impact of loading phase, initial response and CFH genotype on the long-term outcome of treatment for neovascular age-related macular degeneration. PLoS ONE, 7(7):e42014.

This list was generated on Mon Sep 25 18:21:13 2017 CEST.