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American Journal of Medical Genetics. Part A|January 18, 2005
A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotypeMargarita Stefanova, Peter Meinecke, Andreas Gal, et al.European Journal of Pediatrics|July 10, 2004
Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry diseaseKevin Mills, Ashok Vellodi, Peter Morris, et al.Human Mutation|June 23, 2007
p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindnessViktoria Szabo, Hans-Jürgen Kreienkamp, Thomas Rosenberg, et al.Human Mutation|March 19, 2005
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry diseaseEllen Schäfer, Karin Baron, Urs Widmer, et al.Klinische Monatsblatter Fur Augenheilkunde|September 4, 2003
[Hereditary foveal hypoplasia - clinical differentiation]Hans Wolfgang Schroeder, Ulrike Orth, Eberhard Meyer-König, et al.Kidney International|April 21, 2005
Anemia is a new complication in Fabry disease: data from the Fabry Outcome SurveyJulia Kleinert, François Dehout, Andreas Schwarting, et al.American Journal of Hypertension|August 1, 2006
Prevalence of uncontrolled hypertension in patients with Fabry diseaseJulia Kleinert, François Dehout, Andreas Schwarting, et al.Pediatric Neurology|March 31, 2005
Mucopolysaccharidosis type II in females: case report and review of literatureKarin Tuschl, Andreas Gal, Eduard Paschke, et al.JIMD Reports|May 7, 2014
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosisPaulina Nieves Cobos, Cordula Steglich, René Santer, et al.European Journal of Pediatrics|February 27, 2009
Fabry disease in children and the effects of enzyme replacement treatmentGuillem Pintos-Morell, Michael BeckPageof 31