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Plos One|March 17, 2015
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistanMaleeha Maria, Muhammad Ajmal, Maleeha Azam, et al.Investigative Ophthalmology & Visual Science|January 11, 2011
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch populationRob W J Collin, L Ingeborgh van den Born, B Jeroen Klevering, et al.Frontiers in Public Health|October 12, 2023
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicatorsSavino Sciascia, Dario Roccatello, Marco Salvatore, et al.Frontiers in Public Health|March 20, 2023
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network InternationalDomenica Taruscio, Marco Salvatore, Aimè Lumaka, et al.Frontiers in Public Health|March 13, 2025
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutionsSimone Baldovino, Savino Sciascia, Claudio Carta, et al.Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.Pageof 7