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1
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: Ahmed Turki, Yosra Falfoul, Stefan Wyrsch, Maria Helfenstein, Margarita G. Todorova, Daniel F. Schorderet, Imen Habibi, Veronika Vaclavik, Khaled El Matri, Leila El Matri
المصدر: Genes, Vol 10, Iss 12, p 953 (2019)
Genes
Volume 10
Issue 12مصطلحات موضوعية: 0301 basic medicine, Male, Visual acuity, genetic structures, Eye, EOG light rise, 0302 clinical medicine, BEST1, Medicine, Bestrophins, Child, Genetics (clinical), Bestrophinopathy, Eye Diseases, Hereditary, Phenotype, Molecular analysis, Pedigree, best1, medicine.anatomical_structure, Female, medicine.symptom, Autosomal recessive bestrophinopathy, Optic disc, Adult, medicine.medical_specialty, Adolescent, lcsh:QH426-470, phenotype, Retinitis, arb, Article, 03 medical and health sciences, Young Adult, bestrophinopathy, Retinal Diseases, vitelliform macular dystrophy, Ophthalmology, Genetics, Electroretinography, Humans, Genetic Association Studies, business.industry, Correction, mutations, medicine.disease, eye diseases, Electrooculography, lcsh:Genetics, best1 gene, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, sense organs, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e27f1955e3efda9a3059903c2e30ddaTest
https://www.mdpi.com/2073-4425/10/12/953Test -
3Biallelic 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