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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
الوصول الحر: https://escholarship.org/uc/item/00w3d2bqTest
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2دورية أكاديمية
المؤلفون: Testa, Francesco, Carreño, Ester, van den Born, L. Ingeborgh, Melillo, Paolo, Perea-Romero, Irene, Di Iorio, Valentina, Risca, Giulia, Iodice, Clemente Maria, Pennings, Ronald J. E., Karali, Marianthi, Banfi, Sandro, Auricchio, Alberto, Galimberti, Stefania, Ayuso, Carmen, Simonelli, Francesca
المساهمون: Testa, F, Carreño, E, van den Born, L, Melillo, P, Perea-Romero, I, Di Iorio, V, Risca, G, Iodice, C, Pennings, R, Karali, M, Banfi, S, Auricchio, A, Galimberti, S, Ayuso, C, Simonelli, F
مصطلحات موضوعية: Usher syndrome, MYO7A, natural history study, retinitis pigmentosa
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38884554; volume:65; issue:6; firstpage:1; lastpage:10; numberofpages:10; journal:INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; https://hdl.handle.net/10281/486781Test
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3دورية أكاديمية
المؤلفون: Karuntu, Jessica S., Nguyen, Xuan Thanh An, Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij-Delfos, Nicoline E., Klaver, Caroline C.W., Meester-Smoor, Magda A., van den Born, L. Ingeborgh, Hoyng, Carel B., Thiadens, Alberta A.H.J., Bergen, Arthur A., van Nispen, Ruth M.A., Boon, Camiel J.F.
المساهمون: MS Oogheelkunde, Child Health
مصطلحات موضوعية: CRB1, inherited retinal dystrophy, National Eye Institute Visual Function Questionnaire, patient-reported outcome measure, quality of life, Ophthalmology
وصف الملف: application/pdf
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4دورية أكاديمية
المؤلفون: Karuntu, Jessica S., Nguyen, Xuan Thanh An, Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij-Delfos, Nicoline E., Klaver, Caroline C.W., Meester-Smoor, Magda A., van den Born, L. Ingeborgh, Hoyng, Carel B., Thiadens, Alberta A.H.J., Bergen, Arthur A., van Nispen, Ruth M.A., Boon, Camiel J.F.
المصدر: Karuntu , J S , Nguyen , X T A , Talib , M , van Schooneveld , M J , Wijnholds , J , van Genderen , M M , Schalij-Delfos , N E , Klaver , C C W , Meester-Smoor , M A , van den Born , L I , Hoyng , C B , Thiadens , A A H J , Bergen , A A , van Nispen , R M A & Boon , C J F 2024 , ' Quality of life in patients with CRB1-associated retinal dystrophies : A longitudinal study ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1111/aos.15769Test
https://pure.eur.nl/en/publications/656af3df-65b9-44e6-971b-9ec378c81603Test
https://pure.eur.nl/ws/files/102758860/Quality_of_life_in_patients_with_CRB1-associated_retinal_dystrophies.pdfTest
http://www.scopus.com/inward/record.url?scp=85173033531&partnerID=8YFLogxKTest -
5دورية أكاديمية
المؤلفون: Cornelis, Stéphanie S, IntHout, Joanna, Runhart, Esmee H, Grunewald, Olivier, Lin, Siying, Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah J, Whelan, Laura, Farrar, G Jane, Sharon, Dror, van den Born, L Ingeborgh, Arno, Gavin, Simcoe, Mark, Michaelides, Michel, Webster, Andrew R, Roosing, Susanne, Mahroo, Omar A, Dhaenens, Claire-Marie, Cremers, Frans PM, Study, Group
المصدر: JAMA Ophthalmology (2024) (In press).
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10191303/1/Mild_ABCA4_variants_women_metaanalysis_accepted_version.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10191303Test/
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6دورية أكاديمية
المؤلفون: Hensman, Jonathan, Hahn, Leo C., van Schooneveld, Mary J., Diederen, Roselie M.H., ten Brink, Jacoline B., Florijn, Ralph J., Bergen, Arthur A., Strubbe, Ine, Heutinck, Pam, van Genderen, Maria M., van den Born, L. Ingeborgh, Thiadens, Alberta A., de Zaeytijd, Julie, Leroy, Bart P., Hoyng, Carel B., Boon, Camiel J.F.
المصدر: Hensman , J , Hahn , L C , van Schooneveld , M J , Diederen , R M H , ten Brink , J B , Florijn , R J , Bergen , A A , Strubbe , I , Heutinck , P , van Genderen , M M , van den Born , L I , Thiadens , A A , de Zaeytijd , J , Leroy , B P , Hoyng , C B & Boon , C J F 2024 , ' Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.oret.2023.12.003Test
https://pure.eur.nl/en/publications/241e27d6-36c5-476e-a8b2-7f6b0589d5f8Test
https://pure.eur.nl/ws/files/136219548/1-s2.0-S2468653023006474-main.pdfTest
http://www.scopus.com/inward/record.url?scp=85183434127&partnerID=8YFLogxKTest -
7دورية أكاديمية
المؤلفون: Lorenz, Birgit, Tavares, Joana, van den Born, L Ingeborgh, Marques, João Pedro, Pilotto, Elisabetta, Stingl, Katarina, Charbel Issa, Peter, Leroux, Dorothée, Dollfus, Hélène, Scholl, Hendrik P N
المساهمون: Lorenz, Birgit, Tavares, Joana, van den Born, L Ingeborgh, Marques, João Pedro, Pilotto, Elisabetta, Stingl, Katarina, Charbel Issa, Peter, Leroux, Dorothée, Dollfus, Hélène, Scholl, Hendrik P N
مصطلحات موضوعية: ERN-EYE health care provider, EVICR.net clinical center, Europe, Inherited retinal degeneration, Management
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36592621; info:eu-repo/semantics/altIdentifier/wos/WOS:000910577300001; volume:66; issue:1; firstpage:550; lastpage:568; numberofpages:19; journal:OPHTHALMIC RESEARCH; https://hdl.handle.net/11577/3476202Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152110507
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8دورية أكاديمية
المؤلفون: Karuntu, Jessica S., Nguyen, Xuan-Thanh-An, Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij-Delfos, Nicoline E., Klaver, Caroline C. W., Meester-Smoor, Magda A., van den Born, L. Ingeborgh, Hoyng, Carel B., Thiadens, Alberta A. H. J., Bergen, Arthur A., van Nispen, Ruth M. A., Boon, Camiel J. F.
المصدر: Karuntu , J S , Nguyen , X-T-A , Talib , M , van Schooneveld , M J , Wijnholds , J , van Genderen , M M , Schalij-Delfos , N E , Klaver , C C W , Meester-Smoor , M A , van den Born , L I , Hoyng , C B , Thiadens , A A H J , Bergen , A A , van Nispen , R M A & Boon , C J F 2023 , ' Quality of life in patients with CRB1-associated retinal dystrophies : A longitudinal study ' , ....
الإتاحة: https://doi.org/10.1111/aos.15769Test
https://research.vumc.nl/en/publications/8f65c952-e09c-4ba4-b1df-b545442ad22aTest
http://www.scopus.com/inward/record.url?scp=85173033531&partnerID=8YFLogxKTest -
9دورية أكاديمية
المؤلفون: Reurink, Janine, Weisschuh, Nicole, Garanto, Alejandro, Dockery, Adrian, van den Born, L Ingeborgh, Fajardy, Isabelle, Haer-Wigman, Lonneke, Kohl, Susanne, Wissinger, Bernd, Farrar, G Jane, Ben-Yosef, Tamar, Pfiffner, Fatma Kivrak, Berger, Wolfgang, Weener, Marianna E, Dudakova, Lubica, Liskova, Petra, Sharon, Dror, Salameh, Manar, Offenheim, Ashley, Heon, Elise, Girotto, Giorgia, Gasparini, Paolo, Morgan, Anna, Bergen, Arthur A, Ten Brink, Jacoline B, Klaver, Caroline C W, Tranebjærg, Lisbeth, Rendtorff, Nanna D, Vermeer, Sascha, Smits, Jeroen J
المصدر: Reurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A; Ten Brink, Jacoline B; Klaver, Caroline C W; Tranebjærg, Lisbeth; Rendtorff, Nanna D; Vermeer, Sascha; Smits, Jeroen J; et al (2023). Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction. Human Genetics and Genomics Advances, 4(2):100181.
مصطلحات موضوعية: Institute of Medical Molecular Genetics, 610 Medicine & health, 570 Life sciences, biology
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/237185/1/Reurink_et_al_2023.pdfTest; info:pmid/36785559; urn:issn:2666-2477
الإتاحة: https://doi.org/10.5167/uzh-23718510.1016/j.xhgg.2023.100181Test
https://www.zora.uzh.ch/id/eprint/237185Test/
https://www.zora.uzh.ch/id/eprint/237185/1/Reurink_et_al_2023.pdfTest -
10دورية أكاديمية
المؤلفون: Moekotte, Lude, Kuiper, Jonas J.W., Hiddingh, Sanne, Nguyen, Xuan Thanh An, Boon, Camiel J.F., van den Born, L. Ingeborgh, de Boer, Joke H., van Genderen, Maria M.
المساهمون: Oogheelkunde Onderzoek, Infection & Immunity, MS Oogheelkunde, Child Health
مصطلحات موضوعية: CRB1, flow cytometry, inflammation, inherited retinal dystrophy, Ophthalmology, Sensory Systems, Cellular and Molecular Neuroscience
وصف الملف: application/pdf
النص الكامل