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Human Mutation|February 22, 2002
Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1DBenigna von Brederlow, Hanno Bolz, Andreas Janecke, et al.Investigative Ophthalmology & Visual Science|March 29, 2007
The phenotype of early-onset retinal degeneration in persons with RDH12 mutationsAndreas Schuster, Andreas R Janecke, Robert Wilke, et al.International Journal of Cardiology|June 24, 2008
Onset and progression of the Anderson-Fabry disease related cardiomyopathyChristoph Kampmann, Ales Linhart, Frank Baehner, et al.Radiotherapy and Oncology : Journal of the European Society for Therapeutic Radiology and Oncology|August 20, 2013
Sorafenib sensitizes head and neck squamous cell carcinoma cells to ionizing radiationSimon Laban, Leonhard Steinmeister, Lisa Gleißner, et al.Molecular and Cellular Biology|December 16, 2005
Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure thresholdMoritz Hentschke, Martin Wiemann, Suna Hentschke, et al.Journal of Inherited Metabolic Disease|September 15, 2006
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and CMarkus Ries, Ellen Schaefer, Till Lührs, et al.American Journal of Human Genetics|October 13, 2006
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndromeIsabella Wimplinger, Manuela Morleo, Georg Rosenberger, et al.American Journal of Ophthalmology|November 29, 2008
Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutationsAgnes B Renner, Britta S Fiebig, Bernhard H F Weber, et al.Human Mutation|May 18, 2004
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III ANicole Muschol, Stephan Storch, Diana Ballhausen, et al.Journal of Genetics|April 1, 2017
Mutational analysis of the GLA gene in Mexican families with Fabry diseaseBianca Ethel Gutiérrez-Amavizca, Andreas Gal, Rocío Ortíz-Orozco, et al.Pageof 9