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المؤلفون: Tao Chen, Yu-Fei Zhang, Yi Ding, Aidong Wen, Wenjun Wang, Dong-Yu Wei, Yonghe Hu, Kaifeng Li, Pan Long, Mengshan He
المصدر: Oxidative Medicine and Cellular Longevity, Vol 2021 (2021)
Oxidative Medicine and Cellular Longevityمصطلحات موضوعية: Adult, Male, Aging, medicine.medical_specialty, Retinal Disorder, endocrine system diseases, Article Subject, Type 2 diabetes, medicine.disease_cause, Biochemistry, Retina, Diabetes Mellitus, Experimental, Rats, Sprague-Dawley, chemistry.chemical_compound, Sirtuin 1, Internal medicine, medicine, Animals, Humans, Retrospective Studies, ALDH2, Diabetic Retinopathy, QH573-671, business.industry, Aldehyde Dehydrogenase, Mitochondrial, Type 2 Diabetes Mellitus, nutritional and metabolic diseases, Retinal, Cell Biology, General Medicine, Diabetic retinopathy, Middle Aged, medicine.disease, Disease Models, Animal, Oxidative Stress, Diabetes Mellitus, Type 1, Endocrinology, Diabetes Mellitus, Type 2, chemistry, Disease Progression, Female, Reactive Oxygen Species, Cytology, business, Oxidative stress, Research Article, Retinopathy
وصف الملف: text/xhtml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f144c4c93d7f40f3e8c67a903cdc325Test
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المؤلفون: Kei Shinoda, Gavin Arno, Yozo Miyake, Shuhei Kameya, Toshihide Kurihara, Nikolas Pontikos, Hiroaki Miyata, Taro Kominami, Atsushi Mizota, Yu Fujinami-Yokokawa, Kazuo Tsubota, Kazuki Kuniyoshi, Kei Mizobuchi, Kaoru Fujinami, Shinji Ueno, Hiroko Terasaki, Xiao Liu, Kazushige Tsunoda, Lizhu Yang, Takeshi Iwata, Satoshi Katagiri, Takaaki Hayashi, Natsuko Nakamura, Hiroyuki Sakuramoto, Kazutoshi Yoshitake
المصدر: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Retinal Disorder, Visual Acuity, lcsh:Medicine, Article, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Japan, Genotype, Retinitis pigmentosa, medicine, Missense mutation, Humans, lcsh:Science, Genetic Association Studies, Aged, Genetics, Aged, 80 and over, Homeodomain Proteins, Multidisciplinary, business.industry, Disease genetics, lcsh:R, Dystrophy, Macular dystrophy, Middle Aged, medicine.disease, Phenotype, Retinal diseases, Pedigree, 030104 developmental biology, 030221 ophthalmology & optometry, Trans-Activators, lcsh:Q, Female, Age of onset, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85a914eb9af82bdb283e43413aec14deTest
http://europepmc.org/articles/PMC7293272Test -
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المؤلفون: Rita Sousa Silva, Mariana Vallim Salles, Fabiana Louise Motta, Juliana Maria Ferraz Sallum
المصدر: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-6 (2020)مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Retinal Disorder, Adolescent, Epidemiology, Visual Acuity, lcsh:Medicine, Fundus (eye), Article, Retina, Frameshift mutation, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Retinitis pigmentosa, Genetics research, Medicine, Humans, Young adult, Allele, lcsh:Science, Eye Proteins, Alleles, Retrospective Studies, Multidisciplinary, business.industry, lcsh:R, Retrospective cohort study, Middle Aged, medicine.disease, Prognosis, eye diseases, Pedigree, Young age, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, lcsh:Q, Female, sense organs, business, Microtubule-Associated Proteins, Brazil, Retinitis Pigmentosa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46e47a49f3606067991a74f9da304d55Test
http://europepmc.org/articles/PMC6994576Test -
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المؤلفون: Shizuo Mukai, Kevin Ferenchak, Rachel M. Huckfeldt, Erin Zampaglione, Naomi E Wagner, Hilary A Scott, Emily Place, Kinga M. Bujakowska, Katherine R. Chao, Stephanie DiTroia, Eric A. Pierce, Daniel Navarro-Gomez
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Retinal degeneration, Research Report, Male, genetic structures, chemistry.chemical_compound, 0302 clinical medicine, cone-rod dystrophy, Child, Genetics, 0303 health sciences, macular dystrophy, medicine.diagnostic_test, Optical Imaging, severe visual impairment, General Medicine, Macular dystrophy, Pedigree, Phenotype, Child, Preschool, Female, Tomography, Optical Coherence, Adult, Retinal Disorder, Adolescent, Biology, pigmentary retinal degeneration, 03 medical and health sciences, Young Adult, Retinal Diseases, Retinitis pigmentosa, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Allele, Alleles, Genetic Association Studies, 030304 developmental biology, Genetic testing, progressive visual field defects, Dystrophy, Retinal, medicine.disease, central scotoma, Alcohol Oxidoreductases, progressive central visual loss, chemistry, Amino Acid Substitution, peripheral visual field loss, Genetic Loci, Mutation, 030221 ophthalmology & optometry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1062b55c4499fa1fb9dd5559e04bbb0Test
http://europepmc.org/articles/PMC6996522Test -
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المؤلفون: Xuemin Su, Wei Zhang, Hua Shen, Fang Liu, Zhiqiang Yue, Huan-jun Kang, Yiming Fan, Luyong Yang, Shaolei Han, Tao Huo, Genquan Tian, Longhui Han, Jinchen Jia
المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reportsمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Surgical results, medicine.medical_specialty, Retinal Disorder, Timing system, medicine.medical_treatment, Visual Acuity, lcsh:Medicine, Vitrectomy, Ocular trauma, Article, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, lcsh:Science, Monocular Blindness, Multidisciplinary, business.industry, Vitreoretinopathy, Proliferative, lcsh:R, Retinal Detachment, Retrospective cohort study, Middle Aged, Prognosis, medicine.disease, Eye Injuries, Penetrating, Vitreous Hemorrhage, Surgery, 030104 developmental biology, Risk factors, Outcomes research, Vitreous hemorrhage, Female, lcsh:Q, Reconstruction, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5027601605583690d0d3a890cfe81032Test
https://doi.org/10.1038/s41598-019-48862-2Test -
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المؤلفون: Alexandre Matet, Aline Antonio, Saddek Mohand-Said, José-Alain Sahel, Isabelle Audo, Susanne Kohl, Britta Baumann
المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Scientific Reportsمصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Retinal Disorder, Achromatopsia, Adolescent, Imaging biomarker, Fundus Oculi, lcsh:Medicine, Color Vision Defects, Multimodal Imaging, Article, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Optical coherence tomography, Ophthalmology, Humans, Medicine, Genetic Testing, Fluorescein Angiography, Child, lcsh:Science, Retrospective Studies, Multimodal imaging, Spectroscopy, Near-Infrared, Multidisciplinary, medicine.diagnostic_test, business.industry, lcsh:R, Retinal, Middle Aged, medicine.disease, Autofluorescence, 030104 developmental biology, chemistry, Cone dysfunction syndrome, 030221 ophthalmology & optometry, Female, lcsh:Q, business, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc101731d0fd1d6d0599e8da1d784554Test
http://link.springer.com/article/10.1038/s41598-018-23919-wTest -
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المؤلفون: Subhadra Jalali, Sameera Nayak, Sushma Jayanna, Anand Vinekar, Komal Agarwal, Parijat Chandra, Bhavik Panchal, Taraprasad Das, Tapas Ranjan Padhi
المصدر: Indian Journal of Ophthalmology, Vol 69, Iss 4, Pp 812-823 (2021)
Indian Journal of Ophthalmologyمصطلحات موضوعية: Adult, Blinding, Retinal Disorder, pediatric retinal diseases, Review Article, Disease, Diagnostic Techniques, Ophthalmological, Retina, newborn eye screening, chemistry.chemical_compound, Retinal Diseases, lcsh:Ophthalmology, medicine, Humans, Fluorescein Angiography, Child, pediatric retina, medicine.diagnostic_test, business.industry, Infant, Newborn, Fundus photography, Infant, Retinal, Retinopathy of prematurity, Fluorescein angiography, medicine.disease, Ophthalmology, medicine.anatomical_structure, chemistry, retinal imaging, lcsh:RE1-994, Optometry, business, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f36423e13eaff4a39e6e729d6be58408Test
https://doi.org/10.4103/ijo.ijo_1917_20Test -
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المؤلفون: Joseph Ryu, Yan Nuzbrokh, Stephen H. Tsang, Jose Ronaldo Lima de Carvalho, Janet R. Sparrow, Jin Kyun Oh, Vinit B. Mahajan, Teja Chemudupati
المصدر: Investigative Ophthalmology & Visual Science
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Mitochondrial Diseases, Retinal Disorder, genetic structures, Visual Acuity, retinal pigment epithelium, Kearns-Sayre Syndrome, Deafness, Multimodal Imaging, Oxidative Phosphorylation, Kearns–Sayre syndrome, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Atrophy, Ophthalmology, Electroretinography, Genetics, medicine, Humans, Fluorescein Angiography, Aged, Retrospective Studies, Retinal pigment epithelium, medicine.diagnostic_test, business.industry, inherited retinal degeneration, Retinal Degeneration, Retinal, Middle Aged, Macular degeneration, medicine.disease, Fluorescein angiography, eye diseases, mitochondria, 030104 developmental biology, medicine.anatomical_structure, Diabetes Mellitus, Type 2, chemistry, 030221 ophthalmology & optometry, Female, sense organs, business, Tomography, Optical Coherence, Photoreceptor Cells, Vertebrate
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::556cc5d0a7ce3db9b07a1691b451cedcTest
https://doi.org/10.1167/iovs.61.12.12Test -
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المؤلفون: Kirk Stephenson, G. Jane Farrar, Laura Whelan, Adrian Dockery, David J Keegan, Matthew Carrigan, Paul F. Kenna, Julia Zhu, Giuliana Silvestri, Niamh Wynne, Jacqueline Turner, James J. O’Byrne, Peter Humphries
المصدر: Genes
Volume 11
Issue 1
Genes, Vol 11, Iss 1, p 105 (2020)مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Retinal Disorder, lcsh:QH426-470, Genotype, Genomics, Pedigree chart, Computational biology, Disease, Genetic analysis, Article, Retina, 03 medical and health sciences, 0302 clinical medicine, Retinal Diseases, retinopathy, genomics, Genetics, Humans, Medicine, Exome, Genetic Testing, Genotyping, Genetics (clinical), Exome sequencing, Aged, next generation sequencing, novel variants, business.industry, Retinal Degeneration, rare variants, High-Throughput Nucleotide Sequencing, Middle Aged, inherited eye disease, Pedigree, lcsh:Genetics, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, Visual Field Tests, Female, business, Ireland, ophthalmic genetics
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2d063ad79860ba7d4a5e690553f67e5Test
https://doi.org/10.3390/genes11010105Test -
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المؤلفون: Leera D’Souza, Keith Wetherby, Xinjing Wang, Wadih M. Zein, Yang C. Fann, Amy Turriff, Chimere Roberson, Kory R. Johnson, Hong He, Angela Villarta
المصدر: BMC Ophthalmology, Vol 17, Iss 1, Pp 1-15 (2017)
BMC Ophthalmologyمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Retinal Disorder, DNA Mutational Analysis, Context (language use), Computational biology, 030105 genetics & heredity, Polymerase Chain Reaction, Mutation screening, DNA sequencing, 03 medical and health sciences, chemistry.chemical_compound, Genotype-phenotype distinction, lcsh:Ophthalmology, Retinal Dystrophies, Retinal, Humans, Medicine, Genetic Predisposition to Disease, Next-generation-sequencing, Aged, business.industry, General Medicine, Middle Aged, Amplicon, Microdroplet PCR, Ophthalmology, 030104 developmental biology, chemistry, lcsh:RE1-994, Mutation, Female, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffcb5e5be5c3c496149b60903834e0b0Test
https://doi.org/10.1186/s12886-017-0549-5Test