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المؤلفون: Rachel M. Huckfeldt, Cecinio C. Ronquillo, Jin Kyun Oh, Wadih M. Zein, Michael B. Gorin, Nan-Kai Wang, Alessandro Iannaccone, Cristy A. Ku, Byron L. Lam, Mark E. Pennesi, Paul S. Bernstein, John P. Kelly, Robert K. Koenekoop, Jeeyun Ahn, Jia Yue You, Robert B. Hufnagel, Emily Place, Aaron Nagiel, Paul Yang, Austin D. Igelman, Xinxin Zhang, Mariana Matioli da Palma, David G. Birch, Amanda Burr, Michelle T. Cabrera, Kari Branham, Abigail T. Fahim, Benjamin Bakall
المصدر: Investigative Ophthalmology & Visual Science
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, JAG1, Visual acuity, genetic structures, Optic Disk, Visual Acuity, jaundice, Medical Records, Retina, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Ophthalmology, Alagille syndrome, medicine, Genetics, Humans, Genetic Testing, Fluorescein Angiography, business.industry, Medical record, Optical Imaging, Eye Diseases, Hereditary, Jaundice, medicine.disease, eye diseases, retinal dystrophies, 030104 developmental biology, medicine.anatomical_structure, Cohort, Mutation, 030221 ophthalmology & optometry, Visual Field Tests, Female, sense organs, medicine.symptom, business, cholestasis, Retinal Dystrophies, Jagged-1 Protein, Tomography, Optical Coherence, Optic disc
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcae4fb9656764812418779807292ebb
http://europepmc.org/articles/PMC8254011 -
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المؤلفون: Susan H. Blanton, Eric Nisenbaum, Xuezhong Liu, Byron L. Lam, Denise Yan, Torin P Thielhelm, Karl R. Koehler, Aziz El-Amraoui, Aida Nourbakhsh, Zheng-Yi Chen, Yilai Shu
المساهمون: University of Miami Leonard M. Miller School of Medicine (UMMSM), Fudan University [Shanghai], Harvard Medical School [Boston] (HMS), Déficits Sensoriels Progressifs, Pathophysiologie et Thérapie / Progressive Sensory Disorders, Pathophysiology and Therapy (DSP), Sorbonne Université (SU)-Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Dr. Liu’s lab is supported by NIH grants of R01DC005575, R01DC012115. Drs. Eric Nisenbaum and Aida Nourbakhsh are supported by T32 DC015995.
المصدر: Ear Hear
Ear & Hearing
Ear & Hearing, 2022, 43 (1), pp.1-8. ⟨10.1097/AUD.0000000000001066⟩مصطلحات موضوعية: Genetics, Mutation, Usher syndrome, Disease, Biology, medicine.disease, medicine.disease_cause, Phenotype, Article, Speech and Hearing, Otorhinolaryngology, otorhinolaryngologic diseases, medicine, Humans, Sensorineural hearing loss, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, Allele, Age of onset, Gene, Usher Syndromes, Genetic Association Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ddb006d17111717b604e55982e6428
https://europepmc.org/articles/PMC8613301/ -
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المؤلفون: Christine N. Kay, Alicia Chacon, Thomas B. Connor, William W. Hauswirth, Erica N. Woertz, Michel Michaelides, Mark E. Pennesi, Kimberly E Stepien, Joseph Carroll, Byron L. Lam, Niamh Wynne, Sasha Strul, C. Gail Summers, Arlene V. Drack, Brian P. Brooks, Deborah M. Costakos, Katie M. Litts, Alina V. Dumitrescu, Gerald A. Fishman
المصدر: Translational Vision Science & Technology
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Achromatopsia, Visual acuity, genetic structures, Visual Acuity, Biomedical Engineering, Color Vision Defects, albinism, Article, Ophthalmoscopy, 03 medical and health sciences, 0302 clinical medicine, Optical coherence tomography, Foveal, Ophthalmology, medicine, Humans, In patient, Aged, adaptive optics scanning light ophthalmoscopy, Entire population, medicine.diagnostic_test, business.industry, medicine.disease, eye diseases, foveal cones, Benchmarking, 030104 developmental biology, 030221 ophthalmology & optometry, Albinism, sense organs, medicine.symptom, achromatopsia, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e05e509e67856dcc389146a677f05773
http://europepmc.org/articles/PMC8132001 -
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المؤلفون: Jesse D. Sengillo, Ninel Z. Gregori, Robert A. Sisk, Christina Y. Weng, Audina M. Berrocal, Janet L. Davis, Carlos E. Mendoza-Santiesteban, D. Diane Zheng, William J. Feuer, Byron L. Lam
المصدر: Ophthalmology. Retina. 6(4)
مصطلحات موضوعية: Adult, cis-trans-Isomerases, Adolescent, Visual Acuity, Genetic Therapy, Retina, Ophthalmology, Young Adult, Cross-Sectional Studies, Retinal Diseases, Child, Preschool, Humans, Prospective Studies, Child, Retrospective Studies
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المؤلفون: Frank G. Holz, Carel B. Hoyng, Kimberly E. Stepien, Eeva-Marja Sankila, Ian M. MacDonald, Neil M. Bressler, Byron L. Lam, M. Dominik Fischer, Aniz Girach, Mark E. Pennesi, Graeme C.M. Black, Robert E MacLaren, Michael B. Gorin, Amir H Hariri, David G. Birch, Srinivas R. Sadda, Michael Larsen, Michael S. Ip, Stephen H. Tsang, Andrew R. Webster, Isabelle Meunier
المصدر: Hariri, A H, Ip, M S, Girach, A, Lam, B L, Fischer, M D, Sankila, E-M, Pennesi, M E, Holz, F G, Maclaren, R E, Birch, D G, Hoyng, C B, MacDonald, I M, Black, G C, Tsang, S H, Bressler, N M, Stepien, K E, Larsen, M, Gorin, M B, Meunier, I, Webster, A R, Sadda, S & For Natural History of the Progression of Choroideremia (NIGHT) Study Group 2019, ' Macular spatial distribution of preserved autofluorescence in patients with choroideremia ', British Journal of Ophthalmology, vol. 103, no. 7, pp. 933-937 . https://doi.org/10.1136/bjophthalmol-2018-312620
Br J Ophthalmol
British Journal of Ophthalmology, 103, 7, pp. 933-937
British Journal of Ophthalmology, 103, 933-937مصطلحات موضوعية: Fovea Centralis, medicine.medical_specialty, genetic structures, Fundus Oculi, Visual Acuity, Retinal Pigment Epithelium, Multimodal Imaging, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, Choroideremia, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Optical coherence tomography, Ophthalmology, Retinitis pigmentosa, medicine, Humans, In patient, Fluorescein Angiography, medicine.diagnostic_test, business.industry, Significant difference, medicine.disease, Sensory Systems, Fundus autofluorescence, eye diseases, Autofluorescence, nervous system, 030221 ophthalmology & optometry, sense organs, business, Tomography, Optical Coherence, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Christine N. Kay, Byron L. Lam, Ninel Z. Gregori, Janet L. Davis, Harrison Dermer, Rehan M. Hussain
المصدر: International Ophthalmology Clinics. 59:83-110
مصطلحات موضوعية: business.industry, MEDLINE, Retinal, Genetic Therapy, Computational biology, Ophthalmology, chemistry.chemical_compound, Retinal Diseases, chemistry, Humans, Medicine, Current (fluid), business, Gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7f5dba1030287367ca8bb5f533305c9
https://doi.org/10.1097/iio.0000000000000259 -
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المؤلفون: Vittorio Porciatti, Diego E. Alba, William J. Feuer, Janet Davis, John Guy, Byron L. Lam
المصدر: Translational Vision Science & Technology. 11:31
مصطلحات موضوعية: Retinal Ganglion Cells, Ophthalmology, Electroretinography, Vision Disorders, Biomedical Engineering, Humans, Genetic Therapy, Optic Atrophy, Hereditary, Leber
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e87f3d2de0342cc3cc0f3905fd62ff
https://doi.org/10.1167/tvst.11.3.31 -
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المؤلفون: Harry W. Flynn, Ninel Z. Gregori, Thomas A. Ciulla, Audina M. Berrocal, Rehan M. Hussain, Byron L. Lam
المصدر: Expert Opinion on Biological Therapy. 18:1049-1059
مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, medicine.medical_specialty, genetic structures, Genetic enhancement, medicine.medical_treatment, Clinical Biochemistry, ABCA4, Lipofuscin, Propanolamines, Macular Degeneration, 03 medical and health sciences, 0302 clinical medicine, Pharmacotherapy, Ophthalmology, Drug Discovery, medicine, Animals, Humans, Stargardt Disease, Effective treatment, Pharmacology, biology, business.industry, Phenyl Ethers, Therapies, Investigational, Genetic Therapy, Stem-cell therapy, Macular dystrophy, medicine.disease, eye diseases, Complement Inactivating Agents, 030104 developmental biology, 030221 ophthalmology & optometry, biology.protein, ATP-Binding Cassette Transporters, business, Stem Cell Transplantation, Visual phototransduction
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المؤلفون: Peter Szurman, Jiong Yan, Sandra R. Montezuma, K. Thiran Jayasundera, Lisa C. Olmos de Koo, Raymond Iezzi, J. Fernando Arevalo, Peter Wiedemann, Gregg T. Kokame, Lejla Vajzovic, Hossein Ameri, Aleksandra Rachitskaya, Alex Yuan, Naresh Mandava, Paul Hahn, Albert J. Augustin, Jennifer I. Lim, Mark S. Humayun, Salvatore Grisanti, David N. Zacks, Catherine Hoeppner, David G. Birch, James D. Weiland, Gislin Dagnelie, Janet L. Davis, Byron L. Lam, James T. Handa, Ninel Z. Gregori, Allen C. Ho, Suber S. Huang, William J. Feuer, Natalia F. Callaway
المصدر: American Journal of Ophthalmology. 193:87-99
مصطلحات موضوعية: Male, Internationality, Visual Acuity, Article, Retina, Cohort Studies, Prosthesis Implantation, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Optical coherence tomography, Retinitis pigmentosa, Electrode array, Humans, Medicine, Prospective Studies, Prospective cohort study, Aged, computer.programming_language, Aged, 80 and over, Argus, medicine.diagnostic_test, business.industry, Retinal, Anatomy, Middle Aged, medicine.disease, Electrodes, Implanted, Visual Prosthesis, Ophthalmology, Multicenter study, chemistry, Visual prosthesis, 030221 ophthalmology & optometry, Female, business, computer, Retinitis Pigmentosa, 030217 neurology & neurosurgery
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المؤلفون: William W. Hauswirth, Erica N. Woertz, Christine N. Kay, Katie M. Litts, Mark E. Pennesi, Michel Michaelides, Michalis Georgiou, Gerald A. Fishman, Byron L. Lam, Joseph Carroll, Emily J Patterson
المصدر: Translational Vision Science & Technology
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Visual acuity, Achromatopsia, genetic structures, Image quality, Biomedical Engineering, Visual Acuity, Color Vision Defects, Article, adaptive optics, Ophthalmoscopy, 03 medical and health sciences, 0302 clinical medicine, Optical coherence tomography, Ophthalmology, Medical imaging, Medicine, Humans, Adaptive optics, Artifact (error), optical coherence tomography, medicine.diagnostic_test, business.industry, medicine.disease, eye diseases, 030104 developmental biology, inherited retinal disease, 030221 ophthalmology & optometry, sense organs, medicine.symptom, achromatopsia, business, Artifacts, Tomography, Optical Coherence
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8a79e58ba086c8e74627c2fe580ad26
http://europepmc.org/articles/PMC7804582