المؤلفون: Steven Falcone, Smiljana Spasic, Seif Tarek El-Swaify, Maja Kostic, Samir Sur, Prem S. Subramanian, Neil R. Miller, Byron L. Lam, Jacques J. Morcos

المصدر: Journal of Neuro-Ophthalmology. 42:108-114

مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, genetic structures, Vision Disorders, Optic chiasm, Blurred vision, medicine, Humans, Right optic nerve, business.industry, Optic Nerve Neoplasms, Progressive visual loss, Headache, Optic Nerve, Middle Aged, Cavernous malformations, medicine.disease, Magnetic Resonance Imaging, eye diseases, Surgery, Visual field, Ophthalmology, medicine.anatomical_structure, Optic Chiasm, Right optic tract, Optic nerve, Hemianopsia, Female, Neurology (clinical), medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a8cf272666f6e24ace04e626a5a6fa7
https://doi.org/10.1097/wno.0000000000001238

المؤلفون: Joseph Ryu, Stephen H. Tsang, Andrew R. Webster, Eeva-Marja Sankila, Ramiro S. Maldonado, Wadih M. Zein, Lindsey Pyers, Elena R. Schiff, Cristy A. Ku, Jeeyun Ahn, Michael B. Gorin, Mariana Matioli da Palma, Michalis Georgiou, Juliana Maria Ferraz Sallum, Jin Kyun Oh, Paul Yang, Ajoy Vincent, Byron L. Lam, Mark E. Pennesi, Michel Michaelides, Austin D. Igelman

المصدر: Ophthalmic genetics, vol 42, iss 6
Ophthalmic Genet

مصطلحات موضوعية: Male, Pathology, Usher syndrome, Visual Acuity, Cell Cycle Proteins, Retinal Pigment Epithelium, Sensorineural, Neurodegenerative, Eye, Ophthalmology & Optometry, Autoantigens, Multimodal Imaging, chemistry.chemical_compound, 0302 clinical medicine, 2.1 Biological and endogenous factors, Aetiology, Frameshift Mutation, Tomography, Genetics (clinical), Arylsulfatases, Pediatric, 0303 health sciences, Middle Aged, 3. Good health, medicine.anatomical_structure, Phenotype, Codon, Nonsense, Sensorineural hearing loss, Female, medicine.symptom, Usher Syndromes, Tomography, Optical Coherence, ARSG, Adult, medicine.medical_specialty, ABHD12, cep250, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Article, Pallor, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, Opthalmology and Optometry, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Genetics, Humans, CEP78, Genetic Testing, Hearing Loss, Codon, Eye Disease and Disorders of Vision, 030304 developmental biology, Retrospective Studies, Aged, Retinal pigment epithelium, business.industry, Neurosciences, Dystrophy, Retinal, medicine.disease, Monoacylglycerol Lipases, Ophthalmology, Orphan Drug, chemistry, Nonsense, Optical Coherence, Atypical usher syndrome, Pediatrics, Perinatology and Child Health, sense organs, business, 030217 neurology & neurosurgery, Cone-Rod Dystrophies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe8960670d9c0f98cf50a87a64f9ffe5
https://escholarship.org/uc/item/0vc5m5k3

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f430e002c0dc411f93ed17502002e74
https://pubmed.ncbi.nlm.nih.gov/34896323

المؤلفون: Michalis Georgiou, Gerald A. Fishman, Christine N. Kay, Rachel E Linderman, Byron L. Lam, Rebecca Mastey, Joseph Carroll, William W. Hauswirth, Michel Michaelides, Emily J Patterson, Katie M. Litts, Angelos Kalitzeos, Christopher S Langlo, Mark E. Pennesi

المصدر: Curr Eye Res

مصطلحات موضوعية: Adult, Male, Fovea Centralis, Achromatopsia, genetic structures, Adolescent, DNA Mutational Analysis, Visual Acuity, Cyclic Nucleotide-Gated Cation Channels, Cell Count, Color Vision Defects, Article, Ophthalmoscopy, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Optics, Foveal, medicine, Humans, Adaptive optics, Child, 030304 developmental biology, Physics, 0303 health sciences, medicine.diagnostic_test, business.industry, medicine.disease, Sensory Systems, eye diseases, Ophthalmology, Cone (topology), 030221 ophthalmology & optometry, Retinal Cone Photoreceptor Cells, Retinal imaging, Female, Topography, Medical, sense organs, Symmetry (geometry), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8510bf2334b4920c91fcbc05fbd0dd7b
https://pubmed.ncbi.nlm.nih.gov/32108519

المؤلفون: John J. Chen, Aubrey L. Gilbert, Brian G. Weinshenker, Michael S. Lee, Veeral Shah, Byron L. Lam, Andrew McKeon, Jan Mendelt Tillema, Dean M. Wingerchuk, Shannon Beres, Sean J. Pittock, M. Tariq Bhatti, Gregory P. Van Stavern, Divyanshu Dubey, Victoria S. Pelak, Eric R. Eggenberger, Eoin P. Flanagan, Hadas Stiebel-Kalish, Grayson W. Armstrong, Marie D. Acierno, Jeffrey Bennett, Vanda A. Lennon, Alfonso S Lopez Chiriboga, Jiraporn Jitprapaikulsan, James P. Fryer, Collin M. McClelland, Gena Heidary, Amy Kunchok, Heather E. Moss, Dean M. Cestari, Ore-Ofe O Adesina, Claudia F. Lucchinetti

المصدر: Neurology. 95(2)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Multiple Sclerosis, Adolescent, medicine.medical_treatment, Controlled studies, 03 medical and health sciences, Myelin, Young Adult, 0302 clinical medicine, Recurrence, Internal medicine, Steroid sparing, medicine, Humans, Young adult, Age of Onset, Child, Retrospective Studies, business.industry, Immunization, Passive, Retrospective cohort study, Immunotherapy, Middle Aged, 030104 developmental biology, medicine.anatomical_structure, Multicenter study, Antirheumatic Agents, Child, Preschool, Female, Myelin-Oligodendrocyte Glycoprotein, Steroids, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery, Immunosuppressive Agents, Demyelinating Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dda9799c85be89a4ac699b842dcdbaf2
https://pubmed.ncbi.nlm.nih.gov/32554761

المؤلفون: Maria Parker, William W. Hauswirth, Moataz M Razeen, Phyllis Summerfelt, Christine N. Kay, Joseph Carroll, Jeffrey D. Chulay, Laura R Erker, Alfredo Dubra, Brian P. Higgins, Paul Yang, Gerald A. Fishman, Byron L. Lam, David J. Wilson, Jing Zhang, Mark E. Pennesi, Frederick T Collison, Christopher S Langlo, Richard G. Weleber, Emily J. Patterson

المصدر: Retina (Philadelphia, Pa.)

مصطلحات موضوعية: 0301 basic medicine, Male, Fovea Centralis, Achromatopsia, Visual acuity, genetic structures, DNA Mutational Analysis, Visual Acuity, Color Vision Defects, 0302 clinical medicine, Foveal, cone photoreceptor, Medicine, Original Study, Longitudinal Studies, Child, medicine.diagnostic_test, imaging, General Medicine, gene therapy, medicine.anatomical_structure, Retinal Cone Photoreceptor Cells, Female, medicine.symptom, achromatopsia, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Adolescent, Color vision, Cyclic Nucleotide-Gated Cation Channels, adaptive optics, Ophthalmoscopy, 03 medical and health sciences, Young Adult, Optical coherence tomography, Ophthalmology, Electroretinography, Humans, Outer nuclear layer, business.industry, DNA, medicine.disease, eye diseases, 030104 developmental biology, color vision, Mutation, 030221 ophthalmology & optometry, retinal degeneration, sense organs, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af235d238ffbf6579dc1d386b5fa53fd
http://europepmc.org/articles/PMC5537050

المؤلفون: Stephen G. Schwartz, Byron L. Lam, Joshua Pasol, Harry W. Flynn

المصدر: Ophthalmic Surgery, Lasers and Imaging Retina. 47:768-772

مصطلحات موضوعية: Male, Retinal Ganglion Cells, Retinal degeneration, medicine.medical_specialty, Adolescent, genetic structures, Nerve fiber layer, Spectral domain, Documentation, 03 medical and health sciences, chemistry.chemical_compound, Nerve Fibers, 0302 clinical medicine, Optics, Optical coherence tomography, Ophthalmology, medicine, Humans, Aged, Retina, medicine.diagnostic_test, business.industry, Retinal Degeneration, Retinal, medicine.disease, eye diseases, Ganglion, medicine.anatomical_structure, chemistry, 030221 ophthalmology & optometry, Female, sense organs, Visual field loss, business, Tomography, Optical Coherence, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5acae3a81da5a329314df9d5291dadd
https://doi.org/10.3928/23258160-20160808-11

المؤلفون: Amit Tiwari, Sandrine Zweifel, Byron L. Lam, Vaishnavi Batmanabane, Christina Gerth-Kahlert, Silvia Azzarello-Burri, István Magyar, Fabienne C. Fierz, John R. Heckenlively, Daniel Barthelmes, Elias I. Traboulsi, Dunja Niedrist, Kari Branham, Angela Bahr, Elise Heon, Mark E. Pennesi, Wolfgang Berger, Abdullah Aoun Alqahtani, Naheed W. Khan, Samuel Koller, Ajoy Vincent, James V M Hanson, Luzy Baehr

المساهمون: University of Zurich, Gerth-Kahlert, Christina

المصدر: Investigative Ophthalmology & Visual Science, 58 (10)

مصطلحات موضوعية: Male, 0301 basic medicine, Visual acuity, genetic structures, 10039 Institute of Medical Genetics, Visual Acuity, 2804 Cellular and Molecular Neuroscience, 030105 genetics & heredity, Fundus (eye), Audiology, Compound heterozygosity, 11124 Institute of Medical Molecular Genetics, 0302 clinical medicine, Locus heterogeneity, 10064 Neuroscience Center Zurich, Child, Middle Aged, 2731 Ophthalmology, outer retinal tubulation, 10076 Center for Integrative Human Physiology, Female, medicine.symptom, Retinopathy, Adult, 10018 Ophthalmology Clinic, medicine.medical_specialty, Adolescent, phenotype, 610 Medicine & health, Nyctalopia, Young Adult, 03 medical and health sciences, 2809 Sensory Systems, Ophthalmology, retinitis pigmentosa, Retinitis pigmentosa, Electroretinography, medicine, Humans, Eye Proteins, Retrospective Studies, business.industry, medicine.disease, eye diseases, C2orf71 gene, Mutation, 030221 ophthalmology & optometry, Maculopathy, sense organs, Visual Fields, business

وصف الملف: Gerth-Kahlert_1.pdf - application/pdf; application/application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4d3be323758236b6732c88302b6cbf8
https://doi.org/10.5167/uzh-139291

المؤلفون: Mike Tawfik, Timothy W. Winter, Joyce C. Schiffman, Angela M. Herro, Potyra R. Rosa, Joshua Pasol, Byron L. Lam, Ryan Trombly, Laura C. Huang

المصدر: Journal of Neuro-Ophthalmology. 34:223-228

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Visual acuity, Adolescent, genetic structures, Vision Disorders, Visual Acuity, Kaplan-Meier Estimate, Ventriculoperitoneal Shunt, Young Adult, Humans, Medicine, Vp shunt, Child, Survival analysis, Retrospective Studies, Pseudotumor Cerebri, business.industry, Progressive visual loss, Retrospective cohort study, Middle Aged, eye diseases, Visual field, Surgery, Ophthalmology, Treatment Outcome, Female, Neurology (clinical), Visual Fields, Headaches, medicine.symptom, business, Shunt (electrical), Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35ff7c64c561cb5758d681b57dd6ceb2
https://doi.org/10.1097/wno.0000000000000106

المؤلفون: Carla J. Osigian, William J. Feuer, Hilda Capo, Byron L. Lam, Sara F. Grace, Kara M. Cavuoto

المصدر: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 21(5)

مصطلحات موضوعية: Male, medicine.medical_specialty, genetic structures, Screening test, Adolescent, Conscious Sedation, Visual Acuity, Nystagmus, Nystagmus, Pathologic, 03 medical and health sciences, 0302 clinical medicine, Vision Screening, 030202 anesthesiology, Ophthalmology, Retinal Dystrophies, Pupillary response, Electroretinography, Medicine, Humans, Prospective Studies, Prospective cohort study, Child, business.industry, Infant, eye diseases, Retinal dysfunction, Child, Preschool, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Retinal Cone Photoreceptor Cells, Referral center, Female, medicine.symptom, business, Erg

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f28ef001278778c9b7578572ae2c8b73
https://pubmed.ncbi.nlm.nih.gov/28917993