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1دورية أكاديمية
المؤلفون: Oh, Jin Kyun, Vargas Del Valle, José G, Lima de Carvalho, Jose Ronaldo, Sun, Young Joo, Levi, Sarah R, Ryu, Joseph, Yang, Jing, Nagasaki, Takayuki, Emanuelli, Andres, Rasool, Nailyn, Allikmets, Rando, Sparrow, Janet R, Izquierdo, Natalio J, Duncan, Jacque L, Mahajan, Vinit B, Tsang, Stephen H
المصدر: Orphanet Journal of Rare Diseases. 17(1)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Rare Diseases, Clinical Research, Neurosciences, Eye Disease and Disorders of Vision, Neurodegenerative, Genetics, 2.1 Biological and endogenous factors, Eye, Carrier Proteins, Electroretinography, Genetic Association Studies, Humans, Mutation, Phenotype, Retinal Dystrophies, TTLL5, Inherited retinal dystrophy, Retinitis pigmentosa, Cone-rod dystrophy, Cone dystrophy, Autosomal recessive, Cone–rod dystrophy, Other Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/59g1m12n
https://escholarship.org/content/qt59g1m12n/qt59g1m12n.pdf -
2دورية أكاديمية
المؤلفون: Breazzano, Mark P.Aff1, Aff2, Aff3, Aff4, Aff5, Aff6, Oh, Jin Kyun, Batson, Sean A., Kucherich, Julia A.Aff8, Aff9, Karani, Rabia, Rohrmann, Caitlin M., Sparrow, Janet R.Aff1, Aff10, Fragiotta, Serena, Tsang, Stephen H.Aff1, Aff10, Aff12, IDs41433022021379_cor9
المصدر: Eye: The Scientific Journal of The Royal College of Ophthalmologists. 37(7):1489-1495
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3دورية أكاديمية
المؤلفون: Igelman, Austin D, Ku, Cristy, da Palma, Mariana Matioli, Georgiou, Michalis, Schiff, Elena R, Lam, Byron L, Sankila, Eeva-Marja, Ahn, Jeeyun, Pyers, Lindsey, Vincent, Ajoy, Sallum, Juliana Maria Ferraz, Zein, Wadih M, Oh, Jin Kyun, Maldonado, Ramiro S, Ryu, Joseph, Tsang, Stephen H, Gorin, Michael B, Webster, Andrew R, Michaelides, Michel, Yang, Paul, Pennesi, Mark E
المصدر: Ophthalmic Genetics. 42(6)
مصطلحات موضوعية: Clinical Research, Genetics, Eye Disease and Disorders of Vision, Neurosciences, Neurodegenerative, Pediatric, Orphan Drug, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Eye, Adolescent, Adult, Aged, Arylsulfatases, Autoantigens, Cell Cycle Proteins, Codon, Nonsense, Cone-Rod Dystrophies, Female, Frameshift Mutation, Genetic Testing, Hearing Loss, Sensorineural, Humans, Male, Middle Aged, Monoacylglycerol Lipases, Multimodal Imaging, Phenotype, Retinal Pigment Epithelium, Retrospective Studies, Tomography, Optical Coherence, Usher Syndromes, Visual Acuity, Young Adult, Atypical usher syndrome, CEP78, cep250, ARSG, ABHD12, Opthalmology and Optometry, Ophthalmology & Optometry
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0vc5m5k3
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4دورية أكاديمية
المؤلفون: Zhang, Ethan, Ryu, Joseph, Levi, Sarah R., Oh, Jin KyunAff1, Aff2, Hsu, Chun Wei, Cui, XuanAff1, Aff3, Lee, Ting-Ting, Wang, Nan-KaiAff1, Aff5, Aff6, Lima de Carvalho, Jose RonaldoAff1, Aff7, Aff8, Tsang, Stephen H.Aff1, Aff9
المصدر: Mammalian Genome: Precision and Functional Genomics. 31(3-4):77-85
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5دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
6دورية أكاديمية
المؤلفون: Oh, Jin KyunAff1, Aff2, Lima de Carvalho, Jr., Jose RonaldoAff1, Aff3, Aff4, Ryu, Joseph, Tsang, Stephen H.Aff1, Aff5, Sparrow, Janet R.Aff1, Aff5
المصدر: Scientific Reports. 10(1)
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7دورية أكاديمية
المؤلفون: Jauregui, RubenAff1, Aff2, Aff3, Chan, LawrenceAff1, Aff2, Aff4, Oh, Jin KyunAff1, Aff2, Aff5, Cho, AhraAff1, Aff2, Sparrow, Janet R.Aff1, Aff2, Aff6, Tsang, Stephen H.Aff1, Aff2, Aff6
المصدر: Scientific Reports. 10(1)
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8دورية أكاديمية
المؤلفون: Oh, Jin KyunAff1, Aff2, Lima de Carvalho, Jr, Jose RonaldoAff1, Aff3, Aff4, Sun, Young Joo, Ragi, Sara, Yang, Jing, Levi, Sarah R., Ryu, Joseph, Bassuk, Alexander G.Aff6, Aff7, Mahajan, Vinit B.Aff5, Aff8, Tsang, Stephen H.Aff1, Aff9
المصدر: Orphanet Journal of Rare Diseases. 14(1)
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9دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
10دورية أكاديمية
المؤلفون: Oh, Jin Kyun, Levi, Sarah R., de Carvalho Jr., Jose Ronaldo Lima, Abdelhakim, Aliaa H., Hirano, Michio, Maumenee, Irene H., Tsang, Stephen H.
المصدر: Ophthalmic Surgery, Lasers & Imaging Retina; Sep2023, Vol. 54 Issue 9, p536-539, 4p