المؤلفون: Tuncay, Fulya Yaylacıoğlu^Aff4, Hufnagel, Robert B.^Aff5

المساهمون: Singh, Arun D., Series Editor^Aff1, Prakash, Gyan, editor^Aff2, Iwata, Takeshi, editor^Aff3

المصدر: Advances in Vision Research, Volume IV : From Basic to Translational Research — Developing Diagnostics and Therapeutics for Genetic Eye Diseases. :355-370

المؤلفون: Sin, Tzu-Ni, Kim, Sangbae, Li, Yumei, Wang, Jun, Chen, Rui, Chung, Sook Hyun, Kim, Soohyun, Casanova, M Isabel, Park, Sangwan, Smit-McBride, Zeljka, Sun, Ning, Pomerantz, Ori, Roberts, Jeffrey A, Guan, Bin, Hufnagel, Robert B, Moshiri, Ala, Thomasy, Sara M, Sieving, Paul A, Yiu, Glenn

المصدر: Investigative Ophthalmology & Visual Science. 64(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Genetics, Human Genome, Neurodegenerative, Neurosciences, Aetiology, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, 4.2 Evaluation of markers and technologies, Eye, Animals, Myopia, Degenerative, Macaca mulatta, Retinoschisis, Retina, Fovea Centralis, Tomography, Optical Coherence, myopia, myopic foveoschisis, nonhuman primate, x-linked retinoschisis, animal model, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3xz196xw

المؤلفون: Lad, Eleonora M, Duncan, Jacque L, Liang, Wendi, Maguire, Maureen G, Ayala, Allison R, Audo, Isabelle, Birch, David G, Carroll, Joseph, Cheetham, Janet K, Durham, Todd A, Fahim, Abigail T, Loo, Jessica, Deng, Zengtian, Mukherjee, Dibyendu, Heon, Elise, Hufnagel, Robert B, Guan, Bin, Iannaccone, Alessandro, Jaffe, Glenn J, Kay, Christine N, Michaelides, Michel, Pennesi, Mark E, Vincent, Ajoy, Weng, Christina Y, Farsiu, Sina

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Neurosciences, Rare Diseases, Clinical Research, Neurodegenerative, Humans, Usher Syndromes, Visual Field Tests, Tomography, Optical Coherence, Visual Acuity, Retinal Degeneration, Severity of Illness Index, Foundation Fighting Blindness Consortium Investigator Group, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4s60r9h3

المؤلفون: Boobalan, Elangovan, Thompson, Amy H, Alur, Ramakrishna P, McGaughey, David M, Dong, Lijin, Shih, Grace, Vieta-Ferrer, Emile R, Onojafe, Ighovie F, Kalaskar, Vijay K, Arno, Gavin, Lotery, Andrew J, Guan, Bin, Bender, Chelsea, Memon, Omar, Brinster, Lauren, Soleilhavoup, Clement, Panman, Lia, Badea, Tudor C, Minella, Andrea, Lopez, Antonio Jacobo, Thomasy, Sara M, Moshiri, Ala, Blain, Delphine, Hufnagel, Robert B, Cogliati, Tiziana, Bharti, Kapil, Brooks, Brian P

المصدر: Investigative Ophthalmology & Visual Science. 63(12)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Pediatric, Neurosciences, Biotechnology, Genetics, Eye Disease and Disorders of Vision, Aetiology, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Underpinning research, Eye, Animals, Humans, Mice, Coloboma, Gene Expression Regulation, Developmental, Homeodomain Proteins, Intracellular Signaling Peptides and Proteins, Melanins, Mice, Knockout, Nerve Tissue Proteins, Neuropeptides, Retina, Retinal Pigment Epithelium, Zebrafish, Zfp503, NLZ2, coloboma, development, optic fissure, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7hd4375z

المؤلفون: Hufnagel, Robert B, Liang, Wendi, Duncan, Jacque L, Brewer, Carmen C, Audo, Isabelle, Ayala, Allison R, Branham, Kari, Cheetham, Janet K, Daiger, Stephen P, Durham, Todd A, Guan, Bin, Heon, Elise, Hoyng, Carel B, Iannaccone, Alessandro, Kay, Christine N, Michaelides, Michel, Pennesi, Mark E, Singh, Mandeep S, Ullah, Ehsan, Group, for the Foundation Fighting Blindness Consortium Investigator

المصدر: Human Mutation. 43(5)

مصطلحات موضوعية: Genetics, Clinical Research, Neurosciences, Eye Disease and Disorders of Vision, Rare Diseases, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Eye, Extracellular Matrix Proteins, Genetic Association Studies, Humans, Mutation, Retinitis Pigmentosa, Usher Syndromes, genotype, hearing loss, photoreceptor degeneration, retinitis pigmentosa, USH2A, Usher syndrome, Foundation Fighting Blindness Consortium Investigator Group, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/260273dh

المؤلفون: Neilson, Derek E, Zech, Michael, Hufnagel, Robert B, Slone, Jesse, Wang, Xinjian, Homan, Shelli, Gutzwiller, Lisa M, Leslie, Elizabeth J, Leslie, Nancy D, Xiao, Jianfeng, Hedera, Peter, LeDoux, Mark S, Gebelein, Brian, Wilbert, Friederike, Eckenweiler, Matthias, Winkelmann, Juliane, Gilbert, Donald L, Huang, Taosheng

المصدر: Movement disorders : official journal of the Movement Disorder Society. 37(2)

مصطلحات موضوعية: Humans, Dystonic Disorders, Spastic Paraplegia, Hereditary, Dystonia, Paraplegia, Pedigree, Phenotype, Mutation, Human Genome, Clinical Research, Neurosciences, Rare Diseases, Genetics, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Clinical Sciences, Human Movement and Sports Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3v7126sb

المؤلفون: Bender, Chelsea, Woo, Elizabeth Geena, Guan, Bin, Ullah, Ehsan, Feng, Eric, Turriff, Amy, Tumminia, Santa J, Sieving, Paul A, Cukras, Catherine A, Hufnagel, Robert B

المصدر: Genes. 13(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Clinical Research, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Eye Proteins, Female, Founder Effect, Genes, X-Linked, Humans, Male, Mutation, Retinoschisis, X-linked disorder, X-linked retinoschisis, RS1, variant classification, ACMG/ AMP variant interpretation guideline, founder effect, haplotype analysis, ACMG/AMP variant interpretation guideline

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/27356351

المؤلفون: Iannaccone, Alessandro, Brewer, Carmen C, Cheng, Peiyao, Duncan, Jacque L, Maguire, Maureen G, Audo, Isabelle, Ayala, Allison R, Bernstein, Paul S, Bidelman, Gavin M, Cheetham, Janet K, Doty, Richard L, Durham, Todd A, Hufnagel, Robert B, Myers, Mark H, Stingl, Katarina, Zein, Wadih M, Group, Foundation Fighting Blindness Consortium Investigator

المصدر: American Journal of Medical Genetics Part A. 185(12)

مصطلحات موضوعية: Neurodegenerative, Prevention, Neurosciences, Clinical Research, Eye Disease and Disorders of Vision, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Eye, Ear, Adolescent, Adult, Age of Onset, Extracellular Matrix Proteins, Female, Genetic Predisposition to Disease, Hearing Loss, Sensorineural, Humans, Male, Middle Aged, Mutation, Pedigree, Retinal Degeneration, Retinitis Pigmentosa, Smell, Usher Syndromes, Young Adult, autosomal recessive retinitis pigmentosa, olfaction, sensorineural hearing loss, Usher syndrome type 2, Foundation Fighting Blindness Consortium Investigator Group, Genetics, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3j27j4kr

المؤلفون: Pfau, Maximilian^Aff13, Zein, Wadih M.^Aff13, Huryn, Laryssa A.^Aff13, Cukras, Catherine A.^Aff13, Jeffrey, Brett G.^Aff13, Hufnagel, Robert B.^Aff13, Brooks, Brian P.^Aff13

المساهمون: Crusio, Wim E., Series Editor^Aff1, Dong, Haidong, Series Editor^Aff2, Radeke, Heinfried H., Series Editor^Aff3, Rezaei, Nima, Series Editor^Aff4, Steinlein, Ortrud, Series Editor^Aff5, Xiao, Junjie, Series Editor^Aff6, Ash, John D., editor^Aff7, Pierce, Eric, editor^Aff8, Anderson, Robert E., editor^Aff9, Bowes Rickman, Catherine, editor^Aff10, Hollyfield, Joe G., editor^Aff11, Grimm, Christian, editor^Aff12

المصدر: Retinal Degenerative Diseases XIX : Mechanisms and Experimental Therapy. 1415:289-295

المؤلفون: Deignan, Joshua L., Aggarwal, Vimla, Bale, Allen E., Bellissimo, Daniel B., Booker, Jessica K., Cao, Yang, Crooks, Kristy R., Deak, Kristen L., Del Gaudio, Daniela, Funke, Birgit, Hoppman, Nicole L., Horner, Vanessa, Hufnagel, Robert B., Jackson-Cook, Colleen, Koduru, Prasad, Leung, Marco L., Li, Shibo, Liu, Pengfei, Luo, Minjie, Mao, Rong, Mason-Suares, Heather, Mikhail, Fady M., Moore, Stephen R., Naeem, Rizwan C., Pollard, Laura M., Repnikova, Elena A., Shao, Lina, Shaw, Brandon M., Shetty, Shashirekha, Smolarek, Teresa A., Spiteri, Elizabeth, Van Ziffle, Jessica, Vance, Gail H., Vnencak-Jones, Cindy L., Williams, Eli S.

المصدر: In Genetics in Medicine Open 2024 2