المؤلفون: Ketevan V. Gorgisheli, Dmitry S. Atarshchikov, Inna V. Zolnikova, Marianna E. Ivanova, Preetam Ghosh, Debmalya Barh

المصدر: Ophthalmic Genetics. 40:558-563

مصطلحات موضوعية: Genetics, Congenital stationary night blindness, Ophthalmology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Complete congenital stationary night blindness, Biology, Gene, Novel mutation, Genetics (clinical), X-linked recessive inheritance, Frameshift mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2ee5babe27c41300cb119723b9fd8a16
https://doi.org/10.1080/13816810.2019.1698617

المؤلفون: Natalia A. Skvortsova, Marianna E. Ivanova, Inna V. Zolnikova, Yulia A. Skvortsova

المصدر: Офтальмологические ведомости, Vol 11, Iss 4, Pp 93-98 (2018)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, genetic structures, GOLDMANN-FAVRE SYNDROME, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, lcsh:Ophthalmology, Medicine, nr2e3 mutation, goldmann-favre syndrome, General Environmental Science, business.industry, Retinal vasculitis, medicine.disease, Dermatology, enhanced s-cone syndrome, 030104 developmental biology, lcsh:RE1-994, Enhanced S-Cone Syndrome, retinal vasculitis, 030221 ophthalmology & optometry, Etiology, General Earth and Planetary Sciences, sense organs, Clinical case, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::267136316e7f3c399f9caccc5cd425ce
https://doi.org/10.17816/ov11493-98

المؤلفون: Marianna E, Ivanova, Inna V, Zolnikova, Ketevan V, Gorgisheli, Dmitry S, Atarshchikov, Preetam, Ghosh, Debmalya, Barh

المصدر: Ophthalmic genetics. 40(6)

مصطلحات موضوعية: Male, Adolescent, Genotype, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Prognosis, Pedigree, Russia, Night Blindness, Myopia, Humans, Female, Proteoglycans, Child, Frameshift Mutation, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9732f542c41a74d6f7d05763e2e157f2
https://pubmed.ncbi.nlm.nih.gov/31826698

المؤلفون: Inna V. Zolnikova, Alexander S Tanas, Natalia A. Skvortsova, Irina V. Egorova, Vladimir V Strelnikov, Olga N. Demenkova, Darja V. Levina, Debmalya Barh, Elena V. Rogatina, Marianna E. Ivanova, E. Prikaziuk

المصدر: European journal of medical genetics. 60(2)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Population, DNA Mutational Analysis, ABCA4, Biology, Gene mutation, Polymorphism, Single Nucleotide, White People, Russia, 03 medical and health sciences, Macular Degeneration, 0302 clinical medicine, Genetic variation, Genetics, medicine, Humans, Stargardt Disease, Exome, education, Genetics (clinical), Genetic Association Studies, education.field_of_study, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, medicine.disease, Pedigree, Stargardt disease, 030104 developmental biology, Cohort, 030221 ophthalmology & optometry, biology.protein, ATP-Binding Cassette Transporters, Female, Retinopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c933fffc29990f3ebe6753f6e246eb4d
https://pubmed.ncbi.nlm.nih.gov/27939946