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1
المصدر: Ophthalmic genetics. 38(6)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Heterozygote, genetic structures, DNA Mutational Analysis, Inheritance Patterns, Genes, Recessive, Consanguinity, BEST1 gene, urologic and male genital diseases, 03 medical and health sciences, 0302 clinical medicine, Retinal Diseases, Variable phenotype, medicine, Humans, Genetic Testing, Bestrophins, Genetics (clinical), Genetic Association Studies, Genetics, Retina, business.industry, Bestrophinopathy, Inheritance (genetic algorithm), Eye Diseases, Hereditary, Middle Aged, eye diseases, Pedigree, White (mutation), Ophthalmology, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, 030221 ophthalmology & optometry, Optometry, Female, sense organs, business, Autosomal recessive bestrophinopathy, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d93dd530c01b6c7c37528d88504acad8Test
https://pubmed.ncbi.nlm.nih.gov/28481155Test -
2
المؤلفون: Francesco Testa, Ugo Menchini, Ernesto Rinaldi, Francesca Simonelli, Settimio Rossi, M. Della Corte, V. Di Iorio, E Interlandi, Ilaria Passerini, F. Torricelli, Andrea Sodi
المساهمون: Testa, Francesco, Rossi, Settimio, Passerini, I, Sodi, A, Di Iorio, V, Interlandi, E, Della Corte, M, Menchini, U, Rinaldi, E, Torricelli, F, Simonelli, Francesca
المصدر: The British journal of ophthalmology. 92(11)
مصطلحات موضوعية: Adult, Male, Genotype, Sequence analysis, Genetic Linkage, Eye disease, DNA Mutational Analysis, Mutation, Missense, Disease, Cellular and Molecular Neuroscience, Chloride Channels, medicine, Humans, Bestrophins, Child, Eye Proteins, Gene, Genetic testing, Genetics, Corneal Dystrophies, Hereditary, medicine.diagnostic_test, Transition (genetics), business.industry, BEST1 gene, medicine.disease, Phenotype, Sensory Systems, Pedigree, Ophthalmology, Electrooculography, Child, Preschool, Mutation (genetic algorithm), Best disease, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ed5023a8f41e4ee6d827f650a077ff0Test
https://pubmed.ncbi.nlm.nih.gov/18703557Test