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المؤلفون: Hae Rang Kim, Jinu Han, Yong Joon Kim, Hyun Goo Kang, Suk Ho Byeon, Sung Soo Kim, Christopher Seungkyu Lee
المصدر: Genes; Volume 13; Issue 7; Pages: 1197
مصطلحات موضوعية: genetic structures, DNA Mutational Analysis, Angiotensin-Converting Enzyme Inhibitors, Eye Diseases, Hereditary, eye diseases, Pedigree, Angiotensin Receptor Antagonists, autosomal recessive bestrophinopathy (ARB), BEST1 gene, Retinal Diseases, Chloride Channels, Mutation, Genetics, Electroretinography, sense organs, Bestrophins, Genetics (clinical), Tomography, Optical Coherence
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d815b1f5053ab93cfebc4b0092949114Test
https://pubmed.ncbi.nlm.nih.gov/35885980Test -
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المؤلفون: Mireia López-Domínguez, Marta Martín-Sánchez, Manuel Ramos-Jiménez, María José Morillo-Sánchez, Guillermo Antiñolo, Marina Soto-Sierra, Enrique Rodríguez-de-la-Rúa, Beatriz Ponte-Zuñiga
المساهمون: Soto-Sierra, Marina
المصدر: European Journal of Ophthalmology. 32:NP77-NP81
مصطلحات موضوعية: 0301 basic medicine, Genetics, genetic structures, Bestrophinopathies, General Medicine, BEST1 gene, Biology, eye diseases, Autosomal recessive bestrophinopathy, 03 medical and health sciences, Ophthalmology, 030104 developmental biology, 0302 clinical medicine, BEST1, 030221 ophthalmology & optometry, Inherited retinal disease, Novel mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19b6b03c7aefce936e164383f3f367faTest
https://doi.org/10.1177/11206721211010615Test -
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المصدر: Ophthalmic Genetics. 41:183-188
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Best's disease, Adolescent, genetic structures, Penetrance, Vitelliform macular dystrophy, 030105 genetics & heredity, BEST1 gene, Biology, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Bestrophins, Child, Genotype-Phenotype Correlations, Genetic Association Studies, Genetics (clinical), Genetics, Autosomal dominant trait, Prognosis, medicine.disease, eye diseases, Pedigree, Vitelliform Macular Dystrophy, Ophthalmology, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), 030221 ophthalmology & optometry, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ce64af202f7a119adf8cd3bf3d41e6dTest
https://doi.org/10.1080/13816810.2020.1744020Test -
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المؤلفون: Mehmet Yasin Teke, Furkan Emre Sogut, Ali Mert Koçer
المصدر: Journal of Retina. 4:93-96
مصطلحات موضوعية: Genetics, Bestrophin 1, biology, Mutation (genetic algorithm), biology.protein, Bestrophinopathy, BEST1 gene, Genetic analysis, Autosomal recessive bestrophinopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::28af524f3df84b60d76bc2f5d9eed604Test
https://doi.org/10.21561/jor.2019.4.2.93Test -
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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 -
6Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy
المؤلفون: Dordi Austeng, Ragnhild Wivestad Jansson, Siren Berland, Elisabeth Wittström, Cecilie Bredrup, Sten Andréasson
المصدر: Ophthalmic genetics. 37(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Visual acuity, genetic structures, DNA Mutational Analysis, Visual Acuity, BEST1 gene, 0302 clinical medicine, Genotype-phenotype distinction, Medicine, Missense mutation, Bestrophins, Child, Genetics (clinical), Genetics, Slit Lamp, medicine.diagnostic_test, Eye Diseases, Hereditary, Middle Aged, Pedigree, Female, medicine.symptom, Erg, Autosomal recessive bestrophinopathy, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Adolescent, Microscopy, Acoustic, Mutation, Missense, Genes, Recessive, 03 medical and health sciences, Tonometry, Ocular, Young Adult, Retinal Diseases, Chloride Channels, Ophthalmology, Electroretinography, Humans, Eye Proteins, Genetic Association Studies, business.industry, Fundus photography, eye diseases, 030104 developmental biology, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, sense organs, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea1438a8bd60b07f8366a6d9a223b1a7Test
https://pubmed.ncbi.nlm.nih.gov/26333019Test -
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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 -
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المؤلفون: Thomas A. Albini, Byron L. Lam, Ruwan A. Silva, Audina M. Berrocal
المصدر: JAMA Ophthalmology. 131:794
مصطلحات موضوعية: Male, Retinoschisis, DNA Mutational Analysis, Mutation, Missense, Visual Acuity, BEST1 gene, Chloride Channels, Electroretinography, Humans, Medicine, Genetic Predisposition to Disease, Bestrophins, Fluorescein Angiography, Child, Eye Proteins, Genetics, business.industry, Siblings, medicine.disease, Vitelliform Macular Dystrophy, Electrooculography, Ophthalmology, Phenotype, Mutation (genetic algorithm), Female, business, Novel mutation, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b23a6dbaad01b353a64145c03a809314Test
https://doi.org/10.1001/jamaophthalmol.2013.2047Test