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المؤلفون: Byron L. Lam, William J. Feuer, Janet L. Davis, Vittorio Porciatti, Hong Yu, Robert B. Levy, Elizabeth Vanner, John Guy
المصدر: American Journal of Ophthalmology. 241:262-271
مصطلحات موضوعية: Retinal Ganglion Cells, Genetic Vectors, Vision Disorders, Visual Acuity, NADH Dehydrogenase, Genetic Therapy, Optic Atrophy, Hereditary, Leber, Dependovirus, DNA, Mitochondrial, Ophthalmology, Electroretinography, Humans, Prospective Studies, Visual Fields, Tomography, Optical Coherence
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2Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis
المؤلفون: Duygu Bozkaya, Heng Zou, Cindy Lu, Nicole W. Tsao, Byron L. Lam
المصدر: BMC Ophthalmology, Vol 22, Iss 1, Pp 1-10 (2022)
BMC Ophthalmologyمصطلحات موضوعية: Adult, Male, Interocular, Visual acuity, genetic structures, Research, Eye symmetry, General Medicine, Bilateral, RE1-994, Eye, eye diseases, Ophthalmology, Cross-Sectional Studies, Retinal disease, Humans, Prospective Studies, sense organs, Choroideremia
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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 -
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المؤلفون: Bart P. Leroy, Fernanda Belga Ottoni Porto, Byron L. Lam, Robert K. Koenekoop, Jacque L. Duncan, Stephen R. Russell, Aniz Girach, David G. Birch
المصدر: Retina (Philadelphia, Pa.)
Retina (Philadelphia, Pa.), vol 41, iss 5مصطلحات موضوعية: 0301 basic medicine, Pediatrics, DNA Mutational Analysis, Leber Congenital Amaurosis, Phases of clinical research, Cell Cycle Proteins, Disease, Review, Eye, Ophthalmology & Optometry, Blindness, Indirect costs, 0302 clinical medicine, Quality of life, cone-rod dystrophy, Early childhood, LCA10, Pediatric, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Disease Management, General Medicine, childhood blindness, inherited retinal disease, CEP290, medicine.medical_specialty, Clinical Trials and Supportive Activities, 03 medical and health sciences, Rare Diseases, Antisense Oligonucleotide Therapy, Clinical Research, Opthalmology and Optometry, Antigens, Neoplasm, medicine, Genetics, Humans, Antigens, Eye Disease and Disorders of Vision, Health Services Needs and Demand, Stem Cell Research - Induced Pluripotent Stem Cell, business.industry, Neurosciences, DNA, medicine.disease, Leber congenital amaurosis, Stem Cell Research, Ophthalmology, Ciliopathy, Cytoskeletal Proteins, 030104 developmental biology, ciliopathy, 030221 ophthalmology & optometry, Neoplasm, c2991+1655A>G, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82b57206418cb0d77a5f7f6def2ad508
http://europepmc.org/articles/PMC8078118 -
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المؤلفون: Katherine Wesseling Perry, Archana Raja, Emilie D. Douine, Xue Zhong Liu, Brent L. Fogel, Stan F. Nelson, Kenneth R. Maravilla, Eva H. Baker, Dave Viskochil, Kerstin Kutsche, Jordan H. Whitlock, Susan L. Samson, Christine M. Eng, Chloe M. Reuter, Suman Jayadev, David R. Adams, Sihoun Hahn, Rebecca C. Spillmann, Margaret Adam, Heather C Mefford, John C. Carey, Ehsan Ghayoor Karimiani, Donna M. Krasnewich, David Goldstein, Susan A. Korrick, Guoyun Yu, Tomas Honzik, Henry Houlden, Andrea L. Gropman, David A. Sweetser, Anna Bican, Carlos A. Bacino, Liliana Fernandez, Gabrielle Brown, Justin Alvey, Hane Lee, Emanuele G. Coci, Hongzheng Dai, Mario Saporta, Laurel A. Cobban, John F. Bohnsack, Stephanie Fox, Heidi Cope, Tyra Estwick, Lorraine Potocki, Nichole Hayes, Elizabeth A. Burke, Rizwan Hamid, Aaron R. Quinlan, Kelly Hassey, Lindsay C. Burrage, Jane Juusola, Adeline Vanderver, Malik Alawi, Teri A. Manolio, Maja Hempel, Esther M. Maier, Jennifer Kennedy, Bruce D. Gelb, Martha Horike-Pyne, Amarilis Sanchez-Valle, Euan A. Ashley, Surendra Dasari, Elizabeth Blue, Eva Morava-Kozicz, Natalie Rosenwasser, Alan H. Beggs, Bryn D. Webb, Isaac S. Kohane, Kelly Schoch, C. Christopher Lau, Nicole M. Walley, Laura M. Amendola, Genecee Renteria, Catherine H. Sillari, Jonathan A. Bernstein, Pinar Bayrak-Toydemir, R. Frank Kooy, Mariko Nakano-Okuno, Manuela Siekmeyer, Marije E. C. Meuwissen, Stephanie Bivona, Mark Wener, Precilla D'Souza, Olveen Carrasquillo, Paolo Moretti, Diane B. Zastrow, David J. Eckstein, Janet S. Sinsheimer, Kathy Sisco, Holly K. Tabor, William E. Byrd, Esteban C. Dell'Angelica, Rosario Isasi, Jacinda B. Sampson, Carsten Bonnenmann, J. Lawrence Merritt, Joan M. Stoler, Richard L. Maas, Paul G. Fisher, Jeanette C. Papp, Kimberly LeBlanc, Lilianna Solnica-Krezel, Mustafa Tekin, Mathias Woidy, Andrew B. Crouse, Katleen Ballon, David Murphy, Matthew T. Wheeler, Joseph Loscalzo, Ellen Macnamara, Cecelia P. Tamburro, Lefkothea P. Karaviti, Chunli Zhao, Ingrid A. Holm, Pankaj B. Agrawal, Alana L. Grajewski, Stephen C. Pak, Ian R. Lanza, Mohammad Doosti, Jennifer E. Posey, Rebecca Signer, Katie Golden-Grant, Christopher A. Walsh, Alica M. Goldman, Jyoti G. Dayal, Queenie K.-G. Tan, Martin G. Martin, Joy D. Cogan, Kevin S. Smith, Deborah A. Nickerson, Elisabeth McGee, Laure Fresard, Rena A. Godfrey, Sharyn A. Lincoln, Kathleen E. Sullivan, Mariska Davids, Melissa A. Walker, Prashant Sharma, Maria Iascone, Neil H. Parker, Carlos Ferreira, Elizabeth L. Fieg, Edwin K. Silverman, Michael L. Cunningham, Pengfei Liu, Edward M. Behrens, Sandra K. Loo, David R. Murdock, F. Sessions Cole, C. Ron Scott, Dan Doherty, Elly Brokamp, John H. Newman, Alden Y. Huang, Laura A. Pace, Avi Nath, Jimmy Bennet, Georg Christoph Korenke, Alyssa A. Tran, Gabriel F. Batzli, Jimann Shin, Matthew A. Deardorff, Naghmeh Dorrani, Diane Beysen, Irma Gutierrez, Stanislav Kmoch, Majid Alfadhel, Fred F. Telischi, Jennifer A. Sullivan, William A. Gahl, María Palomares-Bralo, Gerard T. Berry, Colleen E. McCormack, Lance H. Rodan, Reza Maroofian, Lenka Nosková, Judy Schaechter, Lynne A. Wolfe, Deborah Krakow, Daryl A. Scott, Tara Wenger, Jason Hom, Dustin Baldridge, Lynette Rives, Lee-kai Wang, Dawn L. Earl, Ralph L. Sacco, Fernando Santos-Simarro, Irman Forghani, Fuki M. Hisama, Terra R. Coakley, Hsiao-Tuan Chao, Jeremy D. Woods, Emily G. Kelley, Jean M. Johnston, Neil A. Hanchard, Amy K. Robertson, Matt Velinder, Byron L. Lam, Wendy H. Raskind, William J. Craigen, Stephan Züchner, Guney Bademci, Julian A. Martinez-Agosto, Mary Koziura, Beth A. Martin, Angela Sun, John A. Phillips, Seema R. Lalani, Daniela Buhas, Emily Solem, Gary D. Clark, Gill Bejerano, Ingo Kurth, Deborah Barbouth, Tiina K. Urv, Fanny Kortüm, Ian A. Glass, Ta Chen Peter Chang, Yong Huang, Roy C. Levitt, Paola Francesca Ajmone, Brenna Boyd, René Santer, Tim Schedl, David D. Draper, Ghayda M. Mirzaa, Aroa Rodríguez Alonso, Stephanie Wallace, Colleen E. Wahl, Calum A. MacRae, Gail P. Jarvik, Jacob L. McCauley, Jill A. Rosenfeld, Ronit Marom, Monte Westerfield, Matthew Might, Poupak Javaher-Haghighi, Brendan C. Lanpher, Devon Bonner, Cynthia J. Tifft, Cecilia Esteves, May Christine V. Malicdan, Jim Bale, Fariha Jamal, Nicola Longo, Christina G.S. Palmer, Lisa Emrick, Peter H. Byers, Vandana Shashi, Tiphanie P. Vogel, Richard A. Lewis, Jijun Wan, Barbara N. Pusey, Maria T. Acosta, Jaak Jaeken, Allyn McConkie-Rosell, Shirley Sutton, John Yang, Lorenzo D. Botto, Hilde Peeters, Rong Mao, Catherine Groden, Brendan Lee, Marta M. Majcherska, Rami Abou Jamra, Ashok Balasubramanyam, Joel B. Krier, Majid Mojarrad, Maria Francesca Bedeschi, Mahshid S. Azamian, Shruti Marwaha, Heather A. Colley, Katrina M. Dipple, Sirisak Chanprasert, Alexa T. McCray, Nicholas Stong, Anne V. Hing, Laura A. Mamounas, Edward C. Smith, Lauren C. Briere, John J.E. Mulvihill, Virginia P. Sybert, Maura R.Z. Ruzhnikov, Valerie Maduro, Frances A. High, Manish J. Butte, Willa Thorson, J. Carl Pallais, Jennefer N. Kohler, Dana Kiley, Raphael Bernier, Christina Lam, Michael J. Bamshad, Patricia A. Ward, Michael F. Wangler, Anita E. Beck, Shinya Yamamoto, Beverly Berg-Rood, Robb Rowley, Gabor T. Marth, Cynthia M. Cooper, Jeffrey G. Jarvik, Thomas C. Markello, Saskia Biskup, Devin Oglesbee, Laura Duncan, Elijah Kravets, Daniel J. Wegner, Mercedes E. Alejandro, Sarah K. Nicholas, Jennifer A. Wambach, Marni J. Falk, Brianna M. Tucker, Marie Morimoto, Corina Heller, Donna Novacic, Camilo Toro, Ashley Andrews, James P. Orengo, Shweta U. Dhar, Pauline E. Schneeberger
المصدر: Brain
مصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, Death Domain Receptor Signaling Adaptor Proteins, Programmed cell death, Developmental Disabilities, Biology, 03 medical and health sciences, 0302 clinical medicine, Epidermal growth factor, medicine, Guanine Nucleotide Exchange Factors, Humans, Death domain, Kinase, Original Articles, Phenotype, Hypotonia, Protein Transport, 030104 developmental biology, Mutation, Cancer research, Human medicine, Neurology (clinical), Nervous System Diseases, Signal transduction, medicine.symptom, 030217 neurology & neurosurgery, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::469dd7950f25b051fd734c3b254fdd78
https://doi.org/10.1093/brain/awaa204 -
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المؤلفون: John J. Chen, Saif Huda, Yael Hacohen, Michael Levy, Itay Lotan, Adi Wilf-Yarkoni, Hadas Stiebel-Kalish, Mark A. Hellmann, Elias S. Sotirchos, Amanda D. Henderson, Sean J. Pittock, M. Tariq Bhatti, Eric R. Eggenberger, Marie Di Nome, Ho Jin Kim, Su-Hyun Kim, Albert Saiz, Friedemann Paul, Russell C. Dale, Sudarshini Ramanathan, Jacqueline Palace, Valentina Camera, Maria Isabel Leite, Byron L. Lam, Jeffrey L. Bennett, Sara Mariotto, Dave Hodge, Bertrand Audoin, Elisabeth Maillart, Romain Deschamps, Julie Pique, Eoin P. Flanagan, Romain Marignier
المصدر: JAMA Neurol
مصطلحات موضوعية: Male, maintenance intravenous immunoglobulin (IVIG), Immunoglobulins, Intravenous, adult patients, Cohort Studies, reduction in relapse frequency, Recurrence, Chronic Disease, Humans, Immunologic Factors, Female, Myelin-Oligodendrocyte Glycoprotein, Neurology (clinical), Child, myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), Autoantibodies, Retrospective Studies, Original Investigation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d92f460c164155b8def5f2848e7eb471
http://hdl.handle.net/11562/1061298 -
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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 Genetمصطلحات 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 -
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المؤلفون: Byron L. Lam, Bart P. Leroy, Graeme Black, Tuyen Ong, Dan Yoon, Karmen Trzupek
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)مصطلحات موضوعية: Genetic testing, Genetic Counseling, Review, General Medicine, Retina, Ophthalmology, Retinal Diseases, Mutation, Retinal Dystrophies, parasitic diseases, Next-generation sequencing, Medicine, Humans, Pharmacology (medical), Molecular diagnosis, Case studies, Inherited retinal disease, Genetics (clinical)
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المؤلفون: Hong Jang, Vittorio Porciatti, Elizabeth Hodapp, Byron L. Lam, Pedro Monsalve, Maja Kostic, Phillip S. Gordon, Luis E Vazquez, John McSoley, John Guy
المصدر: Curr Eye Res
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Mean arterial pressure, Supine position, Retinal Artery, Posture, Population, Glaucoma, Blood Pressure, Article, Tonometry, Ocular, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Heart Rate, Internal medicine, medicine, Humans, Arterial Pressure, education, Intraocular Pressure, education.field_of_study, business.industry, Age Factors, Middle Aged, Central retinal artery pressure, medicine.disease, Healthy Volunteers, Sensory Systems, Ophthalmology, Stenosis, Blood pressure, Regional Blood Flow, Cuff, 030221 ophthalmology & optometry, Cardiology, Female, Ocular Hypertension, business, Glaucoma, Open-Angle, 030217 neurology & neurosurgery
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المؤلفون: Byron L. Lam, Ninel Z. Gregori, Janet L. Davis
المصدر: International Ophthalmology Clinics
مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, Genetic enhancement, Genetic Therapy, medicine.disease, Choroideremia, Ophthalmology, Gene Therapy for Inherited Retinal Disease: Original Articles, Internal medicine, medicine, Humans, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70b1ec6032db89db39d1b98eb879f997
https://pubmed.ncbi.nlm.nih.gov/34584056