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1
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 -
2Biallelic 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: 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