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Crowdfunding Effort Identifies the Causative Mutation in a Patient with Nystagmus,Microcephaly,Dystonia and Hypomyelination
Authors:Ofer Isakov  Dorit Lev  Lubov Blumkin  Gershon Celniker  Esther Leshinsky-Silver  Noam Shomron  Sackler
Affiliation:Ofer Isakov;Dorit Lev;Lubov Blumkin;Gershon Celniker;Esther Leshinsky-Silver;Noam Shomron;Sackler School of Medicine,Tel Aviv University;Metabolic-Neurogenetic Clinic,Wolfson Medical Center;Institute of Medical Genetics,Wolfson Medical Center;Pediatric Neurology Unit,Wolfson Medical Center;Molecular Genetic Laboratory,Wolfson Medical Center;
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