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1دورية أكاديمية
المؤلفون: Hitti-Malin, Rebekkah, Panneman, Daan, Corradi, Zelia, Boonen, Erica, Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek, Matynia, Anna, Gorin, Michael, Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel, Li, Catherina, Klaver, Caroline, Inglehearn, Chris, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo, Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan, van den Born, L, McLaren, Terri, De Roach, John, Lamey, Tina, Thompson, Jennifer, Chen, Fred, Tracewska, Anna, Kamakari, Smaragda, Sallum, Juliana, Bolz, Hanno, Kayserili, Hülya, Roosing, Susanne, Cremers, Frans
المصدر: Biomolecules. 14(3)
مصطلحات موضوعية: inherited, macula, maculopathies, penetrance, retinal, sequencing, Humans, Mutation, Penetrance, Pedigree, Macular Degeneration, Retina, Phenotype, ATP-Binding Cassette Transporters, Eye Proteins, Cadherin Related Proteins, Nerve Tissue Proteins
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/00w3d2bq
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2دورية أكاديمية
المؤلفون: Oh, Jin Kyun, Vargas Del Valle, José G, Lima de Carvalho, Jose Ronaldo, Sun, Young Joo, Levi, Sarah R, Ryu, Joseph, Yang, Jing, Nagasaki, Takayuki, Emanuelli, Andres, Rasool, Nailyn, Allikmets, Rando, Sparrow, Janet R, Izquierdo, Natalio J, Duncan, Jacque L, Mahajan, Vinit B, Tsang, Stephen H
المصدر: Orphanet Journal of Rare Diseases. 17(1)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Rare Diseases, Clinical Research, Neurosciences, Eye Disease and Disorders of Vision, Neurodegenerative, Genetics, 2.1 Biological and endogenous factors, Eye, Carrier Proteins, Electroretinography, Genetic Association Studies, Humans, Mutation, Phenotype, Retinal Dystrophies, TTLL5, Inherited retinal dystrophy, Retinitis pigmentosa, Cone-rod dystrophy, Cone dystrophy, Autosomal recessive, Cone–rod dystrophy, Other Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/59g1m12n
https://escholarship.org/content/qt59g1m12n/qt59g1m12n.pdf -
3دورية أكاديمية
المؤلفون: Hollander, Anneke I den, Mullins, Robert F, Orozco, Luz D, Voigt, Andrew P, Chen, Hsu-Hsin, Strunz, Tobias, Grassmann, Felix, Haines, Jonathan L, Kuiper, Jonas JW, Tumminia, Santa J, Allikmets, Rando, Hageman, Gregory S, Stambolian, Dwight, Klaver, Caroline CW, Boeke, Jef D, Chen, Hao, Honigberg, Lee, Katti, Suresh, Frazer, Kelly A, Weber, Bernhard HF, Gorin, Michael B
مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Macular Degeneration, Neurosciences, Eye Disease and Disorders of Vision, Human Genome, Stem Cell Research, Neurodegenerative, Biotechnology, Genetics, Stem Cell Research - Induced Pluripotent Stem Cell, Aging, Stem Cell Research - Induced Pluripotent Stem Cell - Human, 2.1 Biological and endogenous factors, Aetiology, Eye, Humans, Retinal Pigment Epithelium, Complement System Proteins, Choroid, Proteins, Genomics, Polymorphism, Single Nucleotide, Complement Factor H, High-Temperature Requirement A Serine Peptidase 1, Age-related macular degeneration, Omics, Systems genomics, Single cell sequencing, Expression quantitative trait locus, Complement system, iPSc-RPE, Induced pluripotent stem cells, Clinical trial, Polygenic risk scores, Medical Biochemistry and Metabolomics, Opthalmology and Optometry, Ophthalmology & Optometry, Ophthalmology and optometry
URL الوصول: https://escholarship.org/uc/item/76x6n3jk
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4دورية أكاديمية
المؤلفون: Lim, Esther W., Fallon, Regis J., Bates, Caleb, Ideguchi, Yoichiro, Nagasaki, Takayuki, Handzlik, Michal K., Joulia, Emeline, Bonelli, Roberto, Green, Courtney R., Ansell, Brendan R.E., Kitano, Maki, Polis, Ilham, Roberts, Amanda J., Furuya, Shigeki, Allikmets, Rando, Wallace, Martina, Friedlander, Martin, Metallo, Christian M., Gantner, Marin L.
المصدر: In Cell Metabolism 1 October 2024 36(10):2315-2328
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5دورية أكاديمية
المؤلفون: Liu, Pei-Kang, Lee, Winston, Su, Pei-Yin, Kim, Angela H., Kang, Eugene Yu-Chuan, Levi, Sarah R., Jenny, Laura A., Lin, Pei-Hsuan, Chi, Yi-Chun, Wu, Pei-Liang, Wang, Ethan Hung-Hsi, Chang, Yo-Chen, Liu, Laura, Chen, Kuan-Jen, Hwang, Yih-Shiou, Wu, Wei-Chi, Lai, Chi-Chun, Tsang, Stephen H., Allikmets, Rando, Wang, Nan-Kai
المصدر: In American Journal of Ophthalmology January 2025 269:116-135
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6دورية أكاديمية
المؤلفون: Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah, Mishra, Ketan, Whelan, Laura, Cornelis, Stéphanie S., Hoyng, Carel B., Kämpjärvi, Kati, Klaver, Caroline C.W., Liskova, Petra, Stöhr, Heidi, Weber, Bernhard H.F., Banfi, Sandro, Farrar, G. Jane, Sharon, Dror, Zernant, Jana, Allikmets, Rando, Dhaenens, Claire-Marie, Cremers, Frans P.M.
المصدر: In Human Genetics and Genomics Advances 12 October 2023 4(4)
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7دورية أكاديمية
المؤلفون: Cherry, Timothy J., Yang, Marty G., Harmin, David A., Tao, Peter, Timms, Andrew E., Bauwens, Miriam, Allikmets, Rando, Jones, Evan M., Chen, Rui, De Baere, Elfride, Greenberg, Michael E.
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 Apr . 117(16), 9001-9012.
URL الوصول: https://www.jstor.org/stable/26929670
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8دورية أكاديمية
المؤلفون: Cremers, Frans P.M., Lee, Winston, Collin, Rob W.J., Allikmets, Rando
المصدر: In Progress in Retinal and Eye Research November 2020 79
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9دورية أكاديمية
المؤلفون: Eade, Kevin, Gantner, Marin L., Hostyk, Joseph A., Nagasaki, Takayuki, Giles, Sarah, Fallon, Regis, Harkins-Perry, SarahAff1, Aff4, Baldini, Michelle, Lim, Esther W., Scheppke, Lea, Dorrell, Michael I., Cai, Carolyn, Baugh, Evan H., Wolock, Charles J., Wallace, Martina, Berlow, Rebecca B., Goldstein, David B., Metallo, Christian M., Friedlander, MartinAff1, Aff4, Aff6, Allikmets, RandoAff3, Aff7, IDs42255021003613_cor20
المصدر: Nature Metabolism. 3(3):366-377
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10دورية أكاديمية
المؤلفون: Bonelli, RobertoAff1, Aff2, Jackson, Victoria E.Aff1, Aff2, Prasad, AravindAff1, Aff2, Munro, Jacob E.Aff1, Aff2, Farashi, SamanehAff1, Aff2, Heeren, Tjebo F. C.Aff3, Aff4, Pontikos, NikolasAff3, Aff4, Scheppke, Lea, Friedlander, MartinAff5, Aff6, Egan, Catherine A., Allikmets, RandoAff7, Aff8, Ansell, Brendan R. E.Aff1, Aff2, Bahlo, MelanieAff1, Aff2, IDs4200302101788w_cor14
المصدر: Communications Biology. 4(1)