المؤلفون: Scruggs, Brittni A, Chen, Constance V, Pfeifer, Wanda, Wiley, Jill S, Wang, Kai, Drack, Arlene V

المصدر: Ophthalmic Genetics. 40(4)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Brain Disorders, Eye Disease and Disorders of Vision, Pediatric, Neurosciences, Macular Degeneration, Rare Diseases, Clinical Research, Neurodegenerative, Eye, Carbonic Anhydrase Inhibitors, Child, Child, Preschool, Female, Follow-Up Studies, Humans, Macular Edema, Male, Prognosis, Retinal Dystrophies, Retrospective Studies, Sulfonamides, Thiazines, Brinzolamide/carbonic anhydrase inhibitors, Leber congenital amaurosis, Retinitis pigmentosa, X-linked juvenile retinoschisis, inherited retinal dystrophy, Opthalmology and Optometry, Ophthalmology & Optometry, Ophthalmology and optometry

الوصول الحر: https://escholarship.org/uc/item/3x35x392Test

المؤلفون: Huynh, Nancy, Jeffrey, Brett G, Turriff, Amy, Sieving, Paul A, Cukras, Catherine A

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

المؤلفون: Han, Jonathan¹ (AUTHOR), Young, Jonathan W.¹ (AUTHOR), Frausto, Ricardo F.¹ (AUTHOR), Isenberg, Sherwin J.¹ (AUTHOR), Aldave, Anthony J.¹ (AUTHOR) aldave@jsei.ucla.edu

المصدر: Ophthalmic Genetics. Jun2015, Vol. 36 Issue 2, p145-148. 4p.

مصطلحات موضوعية: *CORNEA diseases, *X-linked genetic disorders, *GENETIC mutation, *CORNEAL topography, *DIAGNOSTIC imaging, *CHORDIN

المؤلفون: Nataša Mihailovic, Simone Schimpf-Linzenbold, Inga Sattler, Nicole Eter, Peter Heiduschka

المصدر: Ophthalmic Genetics. 43:679-684

مصطلحات موضوعية: Ophthalmology, Phenotype, Mutation, Pediatrics, Perinatology and Child Health, Humans, Genetic Diseases, X-Linked, Eye Proteins, Retina, Retinitis Pigmentosa, Genetics (clinical), Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6bd01496aa90635253fa8eb2fa2e70bTest
https://doi.org/10.1080/13816810.2022.2083181Test

المؤلفون: Frederiksen, Anja L.¹ (AUTHOR) anja.lisbeth.frederiksen@slb.regionsyddanmark.dk, Duno, Morten² (AUTHOR), Welinder, Lotte G.³ (AUTHOR)

المصدر: Ophthalmic Genetics. Mar-Jun2013, Vol. 34 Issue 1/2, p101-104. 4p.

مصطلحات موضوعية: *COLOR blindness, *X-linked genetic disorders, *RETINAL degeneration, *GENETIC mutation, *DISEASES in women, GENETICS of eye diseases

المؤلفون: Lisa C, Vinikoor-Imler, Chris, Simpson, Divya, Narayanan, Saad, Abbasi, Cathy, Lally

المصدر: Ophthalmic genetics. 43(5)

مصطلحات موضوعية: Male, Mutation, Prevalence, Humans, Genetic Diseases, X-Linked, Eye Proteins, Retinitis Pigmentosa, GTP Phosphohydrolases, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::6b4615d8f8c43284bbd8de2df04fe26fTest
https://pubmed.ncbi.nlm.nih.gov/36004681Test

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

المؤلفون: Rocio, Arce-Gonzalez, Oscar F, Chacon-Camacho, Alejandro, Navas-Perez, María C, Gonzalez-Gonzalez, Alan, Martinez-Aguilar, Juan Carlos, Zenteno

المصدر: Ophthalmic genetics. 43(2)

مصطلحات موضوعية: Male, Genes, X-Linked, Mutation, Humans, Eye Diseases, Hereditary, Female, Genetic Diseases, X-Linked, Nerve Tissue Proteins, Eye Proteins, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::24ec0e38f37e4e1c75b5924734369258Test
https://pubmed.ncbi.nlm.nih.gov/34844512Test

المؤلفون: Takaaki Hayashi, Yusuke Murakami, Koh Hei Sonoda, Yoshito Koyanagi, Tadashi Nakano, Kei Mizobuchi

المصدر: Ophthalmic Genetics. 42:412-419

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Retinal Disorder, Adult patients, business.industry, High myopia, 030105 genetics & heredity, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), 030221 ophthalmology & optometry, medicine, Genetic finding, Complete congenital stationary night blindness, business, Genetics (clinical), X-linked recessive inheritance, Retinal Bipolar Cell

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::566c57f5cc0a3277d48b77689e5841fbTest
https://doi.org/10.1080/13816810.2021.1904422Test

المؤلفون: Sami H. Uwaydat, Suporn Sukpraprut-Braaten, David A. Kilgore, Tyler A Kilgore, G B Schaefer

المصدر: Ophthalmic Genetics. 42:312-316

مصطلحات موضوعية: medicine.medical_specialty, Adolescent, genetic structures, Gene mutation, Multimodal Imaging, Ophthalmology, Retinal Dystrophies, Retinitis pigmentosa, Electroretinography, Humans, Medicine, Medical history, Family history, Eye Proteins, Genetics (clinical), business.industry, Genetic Carrier Screening, High-Throughput Nucleotide Sequencing, Dystrophy, Genetic Diseases, X-Linked, Exons, Retinitis pigmentosa GTPase regulator, medicine.disease, eye diseases, Scanning laser ophthalmoscopy, Ophthalmoscopy, Pediatrics, Perinatology and Child Health, Female, sense organs, business, Tomography, Optical Coherence, Retinopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d9f41c6f26d2fb26c74e7b35dbc0886Test
https://doi.org/10.1080/13816810.2021.1881981Test