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1دورية أكاديمية
المؤلفون: Giulia Venturini, Silvio Alessandro Di Gioia, Shyana Harper, Carol Weigel-DiFranco, Carlo Rivolta, Eliot L Berson
المصدر: PLoS ONE, Vol 9, Iss 3, p e92479 (2014)
وصف الملف: electronic resource
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المؤلفون: Bernard Rosner, Alexander R. Gaudio, Carol Weigel-DiFranco, Michael A. Sandberg, Eliot L. Berson
مصطلحات موضوعية: Male, Vitamin, Retinyl Esters, Pediatrics, medicine.medical_specialty, Visual acuity, Adolescent, Visual Acuity, Antioxidants, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Retinyl palmitate, Retinitis pigmentosa, medicine, Electroretinography, Humans, Child, Vitamin A, Retrospective Studies, Original Investigation, business.industry, Confounding, Case-control study, Retrospective cohort study, medicine.disease, Ophthalmology, chemistry, Case-Control Studies, Cohort, Dietary Supplements, Disease Progression, Retinal Cone Photoreceptor Cells, 030221 ophthalmology & optometry, Female, Diterpenes, medicine.symptom, business, Photic Stimulation, 030217 neurology & neurosurgery, Retinitis Pigmentosa
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caf6e10e47c5eb90881f1638e6bf987d
https://europepmc.org/articles/PMC5876883/ -
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المصدر: Ophthalmology. 122:1899-1906
مصطلحات موضوعية: Adult, Heterozygote, medicine.medical_specialty, Visual acuity, Adolescent, Genotyping Techniques, genetic structures, Vision Disorders, Visual Acuity, Dark Adaptation, Audiology, Retina, Article, GTP-Binding Proteins, Retinitis pigmentosa, Electroretinography, medicine, Humans, Child, Eye Proteins, Genetic Association Studies, Aged, Retrospective Studies, Aged, 80 and over, medicine.diagnostic_test, business.industry, Intracellular Signaling Peptides and Proteins, Infant, Membrane Proteins, Genetic Diseases, X-Linked, Middle Aged, medicine.disease, eye diseases, Visual field, Ophthalmology, Visual function, Child, Preschool, Female, X-linked retinitis pigmentosa, Visual Fields, Abnormality, medicine.symptom, business, Erg, Photic Stimulation, Retinitis Pigmentosa
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المؤلفون: Shahrokh C. Khani, Alan F. Wright, Michael Adamian, Xinhua Shu, O. Bulgakov, Eliot L. Berson, Robin R. Ali, Michael A. Sandberg, Xun Sun, Andrew Smith, Tiansen Li, Basil S. Pawlyk
المصدر: Gene therapy
مصطلحات موضوعية: 0301 basic medicine, G-Protein-Coupled Receptor Kinase 1, Transgene, Genetic enhancement, Biology, Article, 03 medical and health sciences, Mice, Retinal Rod Photoreceptor Cells, Retinitis pigmentosa, Genetics, medicine, Animals, Humans, Eye Proteins, Promoter Regions, Genetic, Molecular Biology, Gene, Cilium, Alternative splicing, Genetic Therapy, Dependovirus, medicine.disease, eye diseases, 3. Good health, Mice, Inbred C57BL, Alternative Splicing, Disease Models, Animal, 030104 developmental biology, Retinal Cone Photoreceptor Cells, Molecular Medicine, Linker, Function (biology), Retinitis Pigmentosa
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المؤلفون: Joseph A. White, Daniel G. Taub, Mark Consugar, Xiaowu Gai, Carol Weigel DiFranco, Eliot L. Berson, Eric A. Pierce, Daniel Navarro-Gomez, Shyana Harper, Jaclyn Lena, Kinga M. Bujakowska, Michael H. Farkas, Emily Place
المصدر: Investigative Ophthalmology & Visual Science. 55:8488-8496
مصطلحات موضوعية: Adult, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Hearing loss, Usher syndrome, DNA Mutational Analysis, Myosins, Biology, Bioinformatics, Congenital hearing loss, DNA sequencing, Cohort Studies, Cellular and Molecular Neuroscience, Exon, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Humans, Exome sequencing, Genetics, Gene Expression Profiling, Genetic Variation, Articles, Exons, Sequence Analysis, DNA, medicine.disease, Sensory Systems, Pedigree, Ophthalmology, Mutation, medicine.symptom, Usher Syndromes
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f4d4f9b9d3e7c277ce560fa136f0831
https://doi.org/10.1167/iovs.14-15169 -
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المؤلفون: Makoto Nakamura, Yangfan P. Liu, Hanna Koskiniemi-Kuendig, Rick Tearle, Robert K. Koenekoop, Edwin C. Oh, Hiroko Terasaki, Koji M. Nishiguchi, Tetsuhiro Yasuma, Shinji Ueno, Eliot L. Berson, Jacques S. Beckmann, Nicholas Katsanis, Paola Benaglio, Giulia Venturini, Naomichi Matsumoto, Shiro Ikegawa, Mineo Kondo, Shyana Harper, Carlo Rivolta, Dror Sharon, Noriko Miyake
المصدر: Proceedings of the National Academy of Sciences of the United States of America
مصطلحات موضوعية: Cancer genome sequencing, Genome evolution, Genetics, Medical, Molecular Sequence Data, Genomics, Protein Serine-Threonine Kinases, Biology, 03 medical and health sciences, 0302 clinical medicine, Japan, Animals, Humans, NIMA-Related Kinases, Copy-number variation, Frameshift Mutation, Zebrafish, Exome sequencing, 030304 developmental biology, Gene Rearrangement, Genetics, Whole genome sequencing, 0303 health sciences, Multidisciplinary, Base Sequence, Genome, Human, Sequence Analysis, DNA, Gene rearrangement, Biological Sciences, United States, 3. Good health, 030221 ophthalmology & optometry, Human genome, Retinitis Pigmentosa, Genome-Wide Association Study
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1a9fe37b66238c022d282c96f4832c3
https://doi.org/10.1073/pnas.1308243110 -
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المؤلفون: Adriana Ransijn, Shyana Harper, Carlo Rivolta, Carmen Ayuso, Eliot L. Berson, Goranka Tanackovic
المصدر: American journal of human genetics
مصطلحات موضوعية: Adult, Male, Retinal degeneration, Spliceosome, RNA Splicing, Mutation, Missense, Biology, medicine.disease_cause, Retina, 03 medical and health sciences, 0302 clinical medicine, Report, Retinitis pigmentosa, medicine, Genetics, Humans, Missense mutation, Genetics(clinical), Eye Proteins, Gene, Genetics (clinical), Genes, Dominant, 030304 developmental biology, 0303 health sciences, Mutation, Intron, RNA-Binding Proteins, medicine.disease, Molecular biology, Introns, Pedigree, RNA splicing, Spliceosomes, RNA Splicing Factors, Retinitis Pigmentosa, 030217 neurology & neurosurgery, HeLa Cells, Transcription Factors
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المؤلفون: Basil S. Pawlyk, Xiaoyun Xu, Xun Sun, Michael A. Sandberg, Michael Adamian, Shahrokh C. Khani, Xiao-Qing Liu, O. V. Bulgakov, Eliot L. Berson, Taibo Li
المصدر: Human Gene Therapy. 21:993-1004
مصطلحات موضوعية: Retinal degeneration, genetic structures, G-Protein-Coupled Receptor Kinase 1, Photoreceptor Connecting Cilium, Transgene, Genetic enhancement, Genetic Vectors, Leber Congenital Amaurosis, Biology, Mice, Electroretinography, Genetics, medicine, Animals, Humans, Promoter Regions, Genetic, Molecular Biology, Research Articles, Retina, Gene therapy of the human retina, Cilium, Retinal Degeneration, Proteins, Genetic Therapy, Retinitis pigmentosa GTPase regulator, medicine.disease, eye diseases, Cell biology, Mice, Inbred C57BL, Cytoskeletal Proteins, Disease Models, Animal, medicine.anatomical_structure, Molecular Medicine, sense organs
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71106e981c7689473342c6c58be35b8a
https://doi.org/10.1089/hum.2009.218 -
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المؤلفون: Eliot L. Berson, Terri L. McGee, Babak Jian Seyedahmadi, Meredith O. Sweeney, Thaddeus P. Dryja
المصدر: Journal of Medical Genetics. 47:499-506
مصطلحات موضوعية: Usher syndrome, Nonsense mutation, Mutation, Missense, Biology, medicine.disease_cause, Article, Frameshift mutation, Cohort Studies, Exon, Retinitis pigmentosa, otorhinolaryngologic diseases, Genetics, medicine, Humans, Protein Isoforms, Missense mutation, Genetic Predisposition to Disease, Genetics (clinical), Extracellular Matrix Proteins, Mutation, Computational Biology, Sequence Analysis, DNA, medicine.disease, Sensorineural hearing loss, Usher Syndromes, Retinitis Pigmentosa
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المؤلفون: Eliot L. Berson, Russell L. Woods, Eli Peli, Robert G. Giorgi
المصدر: Ophthalmic and Physiological Optics. 30:240-252
مصطلحات موضوعية: Adult, Male, Time Factors, genetic structures, medicine.medical_treatment, Vision Disorders, Adaptation (eye), Article, Pupil, law.invention, Vision disorder, law, Surveys and Questionnaires, Tunnel vision, Humans, Medicine, Mobility Limitation, Rehabilitation, business.industry, Middle Aged, eye diseases, Sensory Systems, Visual field, Lens (optics), Ophthalmology, Eyeglasses, Optometry, Female, Visual Fields, medicine.symptom, business, Choroideremia, Retinitis Pigmentosa, Follow-Up Studies, Primary gaze