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1دورية أكاديمية
المصدر: Ophthalmic Genetics. 35(1)
مصطلحات موضوعية: Genetics, Genetic Testing, Neurosciences, Macular Degeneration, Rare Diseases, Neurodegenerative, Clinical Research, Eye Disease and Disorders of Vision, Eye, ATP-Binding Cassette Transporters, Color Vision, Electroretinography, Eye Diseases, Hereditary, Female, Genetic Diseases, X-Linked, Humans, Middle Aged, Mutation, Missense, Myopia, Night Blindness, Open Reading Frames, Polymerase Chain Reaction, Receptors, Glutamate, Stargardt Disease, Tomography, Optical Coherence, Visual Acuity, Visual Fields, ABCA4, congenital stationary night blindness, electronegative ERG, GRM6, Stargardt disease, Opthalmology and Optometry, Ophthalmology & Optometry
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9qz019f4Test
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المؤلفون: Zhihang Cheng, Richard P. Hagan, Damien C. M. Yeo
المصدر: Ophthalmic Genetics. 43:253-257
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, genetic structures, Retinoschisis, Nerve Tissue Proteins, Compound heterozygosity, Macular Degeneration, Atrophy, Ophthalmology, Electroretinography, Humans, Medicine, Missense mutation, Eye Proteins, Genetics (clinical), CRB1, business.industry, Membrane Proteins, Macular dystrophy, medicine.disease, eye diseases, Mutation, Pediatrics, Perinatology and Child Health, Maculopathy, sense organs, business, Erg
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::910d60c0e3bebabc55fb1132ab3341afTest
https://doi.org/10.1080/13816810.2021.1998551Test -
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المصدر: Ophthalmic Genetics. 43:110-115
مصطلحات موضوعية: Male, medicine.medical_specialty, Visual acuity, genetic structures, Developmental Disabilities, Vesicular Transport Proteins, Fundus (eye), Fingers, Exon, Intellectual Disability, Ophthalmology, Retinal Dystrophies, Electroretinography, Myopia, medicine, Humans, Obesity, Scotopic vision, Genetics (clinical), Cohen syndrome, business.industry, Retinal Degeneration, medicine.disease, eye diseases, VPS13B, Diabetes Mellitus, Type 2, Pediatrics, Perinatology and Child Health, Microcephaly, Muscle Hypotonia, sense organs, medicine.symptom, business, Erg, Tomography, Optical Coherence, Photopic vision
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f003870a3a087c65317bd59d36e49cdTest
https://doi.org/10.1080/13816810.2021.1970194Test -
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المؤلفون: Lisa Ewans, Dhimas Hari Sakti, Benjamin M. Nash, Afsah Zaheer, Peter McCluskey, Clara W. T. Chung, Sulekha Rajagopalan, Robyn V. Jamieson, John R. Grigg, Stephanie Retsas, Nina Mustafic, Elisa E Cornish
المصدر: Ophthalmic Genetics. 42:706-716
مصطلحات موضوعية: medicine.medical_specialty, Retinal pigment epithelium, genetic structures, medicine.diagnostic_test, business.industry, Disease progression, MERTK, medicine.disease, eye diseases, Ophthalmology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Retinitis pigmentosa, Medicine, Biomarker (medicine), sense organs, business, Erg, Genetics (clinical), Retinopathy, Electroretinography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d37401647657196bbb5c8b5a1bd7b984Test
https://doi.org/10.1080/13816810.2021.1955278Test -
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المؤلفون: Dag Holmquist, Bernd Wissinger, Jürg Hengstler, David Epstein, Susanne Kohl, Kristina Tear-Fahnehjelm, Monica Olsson
المصدر: Ophthalmic Genetics. 42:570-576
مصطلحات موضوعية: Male, medicine.medical_specialty, Visual acuity, Adolescent, genetic structures, Color vision, Visual Acuity, Color Vision Defects, Amblyopia, Retina, Young Adult, Exon, chemistry.chemical_compound, Sickness Impact Profile, Ophthalmology, Electroretinography, Myopia, medicine, Humans, Genetics (clinical), Color Perception Tests, medicine.diagnostic_test, business.industry, Rod Opsins, Genetic Diseases, X-Linked, Retinal, Exons, eye diseases, Phenotype, chemistry, OPN1LW, Myopia, Degenerative, Pediatrics, Perinatology and Child Health, sense organs, Visual Fields, medicine.symptom, Protanopia, business, Erg, Color Perception, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc774c3df92a49c5390068549645c8caTest
https://doi.org/10.1080/13816810.2021.1938139Test -
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المؤلفون: Michel Michaelides, Anthony G. Robson, Thales Antonio Cabral de Guimaraes, Michalis Georgiou
المصدر: Ophthalmic Genetics
article-version (VoR) Version of Recordمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, supernormal rod responses, genetic structures, Retinal dystrophy, Genetic enhancement, KCNV2, Reviews, Review, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Gene therapy, Cone dystrophy, Pathognomonic, Molecular genetics, medicine, cone-rod dystrophy, retinal dystrophy, cone dystrophy, Genetics (clinical), business.industry, Dystrophy, medicine.disease, potassium channels, eye diseases, Ophthalmology, ERG, Pediatrics, Perinatology and Child Health, molecular genetics, 030221 ophthalmology & optometry, sense organs, business, Erg, Retinopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f5a222fcd14926ddb0bd04e4cf13d0Test
http://europepmc.org/articles/PMC7446039Test -
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المؤلفون: Ponjavic, Vesna, Abrahamson, Magnus, Andréasson, Sten, van Bokhoven, Hans, Cremers, Frans P M, Ehinger, Berndt, Fex, Göran
المصدر: Ophthalmic Genetics. 16(4):143-150
مصطلحات موضوعية: CHM gene, Choroideremia, full-field ERG, phenotype, Medicin och hälsovetenskap, Klinisk medicin, Oftalmologi, Medical and Health Sciences, Clinical Medicine, Ophthalmology
الوصول الحر: https://lup.lub.lu.se/record/1109728Test
http://dx.doi.org/10.3109/13816819509057855Test -
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المؤلفون: Joseph Ryu, Yuchen Lin, Ke Yao, Christine L. Xu, Akemi J. Tanaka, Janet R. Sparrow, Stephen H. Tsang, Mark P. Breazzano, Sarah R. Levi
المصدر: Ophthalmic Genetics. 41:26-30
مصطلحات موضوعية: medicine.medical_specialty, Retinal pigment epithelium, genetic structures, medicine.diagnostic_test, business.industry, Fundus photography, Dystrophy, Fundus (eye), medicine.disease, eye diseases, Ophthalmology, medicine.anatomical_structure, Atrophy, Pediatrics, Perinatology and Child Health, Retinitis pigmentosa, medicine, sense organs, business, Erg, Genetics (clinical), Electroretinography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0ca818f55812b62a885064a936e8bcf4Test
https://doi.org/10.1080/13816810.2020.1723116Test -
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المؤلفون: Logan M. Smith, Audina M. Berrocal, Craig A. McKeown, Jonathan F. Russell, Mustafa Tekin, Byron L. Lam, John Chiang, Linda A. Cernichiaro-Espinosa
المصدر: Ophthalmic Genetics. 41:57-62
مصطلحات موضوعية: medicine.medical_specialty, genetic structures, medicine.diagnostic_test, business.industry, Retinoschisis, Fundus (eye), medicine.disease, Fluorescein angiography, eye diseases, Ophthalmoscopy, Ophthalmology, Atrophy, Optical coherence tomography, Pediatrics, Perinatology and Child Health, medicine, sense organs, business, Erg, Genetics (clinical), Retinopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0a8d1171eacbe350f30d919c2e328ae4Test
https://doi.org/10.1080/13816810.2020.1723115Test -
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المؤلفون: Kiyoko Gocho, Daiki Kubota, Hiroshi Takahashi, Noriko Oishi, Atsushi Mizota, Tsutomu Igarashi, Takeshi Iwata, Shuhei Kameya, Nobuo Ishida, Sachiko Kikuchi, Kunihiko Yamaki
المصدر: Ophthalmic Genetics. 40:480-487
مصطلحات موضوعية: 0301 basic medicine, GNAT1, Congenital stationary night blindness, Genetics, Sanger sequencing, genetic structures, Oguchi disease, Dystrophy, 030105 genetics & heredity, Fundus (eye), Biology, medicine.disease, eye diseases, 03 medical and health sciences, Ophthalmology, symbols.namesake, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, symbols, medicine, sense organs, Erg, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e3c63387f141ccb1150cff43a633cdcbTest
https://doi.org/10.1080/13816810.2019.1686159Test