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Genomics|April 15, 2004
Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndromeMarkéta Sutajová, Ursula Neukirchen, Peter Meinecke, et al.Human Mutation|April 27, 2004
Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicingChristian A Hübner, Barbara Utermann, Sigrid Tinschert, et al.Molecular Vision|December 17, 2009
Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosaThomas Rio Frio, Sylwia Panek, Christian Iseli, et al.Journal of the American College of Cardiology|November 13, 2002
Cardiac manifestations of Anderson-Fabry disease in heterozygous femalesChristoph Kampmann, Frank Baehner, Catharina Whybra, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|February 26, 2004
Advanced renal insufficiency in a 34-year-old man with Lowe syndromeLothar Schramm, Andreas Gal, Josef Zimmermann, et al.American Journal of Medical Genetics|May 7, 2002
No association between DCP1 genotype and late-onset Alzheimer diseaseSvenja Buss, Tomas Müller-Thomsen, Cristoph Hock, et al.Human Mutation|April 23, 2002
Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genesKerstin Kutsche, Bernadette Ressler, Heide-Gertrude Katzera, et al.Pediatric Nephrology (Berlin, Germany)|July 14, 2006
IgA nephropathy in two adolescent sisters heterozygous for Fabry diseaseCatharina Whybra, Andreas Schwarting, Jörg Kriegsmann, et al.Journal of Nephrology|July 14, 2005
Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutationSigrid Harendza, Christian A Hübner, Christiane Gläser, et al.Acta Paediatrica (Oslo, Norway : 1992). Supplement|May 25, 2006
Disease manifestations and X inactivation in heterozygous females with Fabry diseaseEsther M Maier, Stephanie Osterrieder, Catharina Whybra, et al.Pageof 9