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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: 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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3دورية أكاديمية
المؤلفون: Kaltak, Melita, de Bruijn, Petra, van Leeuwen, Willemijn, Platenburg, Gerard, Cremers, Frans P. M., Collin, Rob W. J., Swildens, Jim
المساهمون: Horizon 2020 Framework Programme
المصدر: Scientific Reports ; volume 14, issue 1 ; ISSN 2045-2322
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41598-024-51203-7Test
https://www.nature.com/articles/s41598-024-51203-7.pdfTest
https://www.nature.com/articles/s41598-024-51203-7Test -
4دورية أكاديمية
المؤلفون: Li, Catherina H.Z., Pas, Jeroen A.A.H., Corradi, Zelia, Hitti-Malin, Rebekkah J., Hoogstede, Anne, Runhart, Esmee H., Dhooge, Patty P.A., Collin, Rob W.J., Cremers, Frans P.M., Hoyng, Carel B.
المساهمون: Health Research Board, Health Research Charities Ireland, Foundation Fighting Blindness
المصدر: Ophthalmology ; volume 131, issue 1, page 87-97 ; ISSN 0161-6420
الإتاحة: https://doi.org/10.1016/j.ophtha.2023.08.011Test
https://api.elsevier.com/content/article/PII:S0161642023005742?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0161642023005742?httpAccept=text/plainTest -
5
المؤلفون: Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., de Bruijn, Suzanne E., Reurink, Janine, Boonen, Erica G.M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, Cerda, Berta de la, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, de Koning, Bart, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A.H.J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J.M., van de Vorst, Maartje, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P.M., Roosing, Susanne
المصدر: Frontiers in Cell and Developmental Biology. 11
مصطلحات موضوعية: cost-effective, high-throughput, inherited retinal diseases, smMIPs, targeted gene sequencing, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics
الوصول الحر: https://lup.lub.lu.se/record/1e2c7301-6eec-43e1-8240-1d6d7c81d55cTest
http://dx.doi.org/10.3389/fcell.2023.1112270Test -
6دورية أكاديمية
المؤلفون: Fadaie, Zeinab, Khan, Mubeen, Del Pozo‐Valero, Marta, Cornelis, Stéphanie S, Ayuso, Carmen, Cremers, Frans PM, Roosing, Susanne, group, The ABCA4 study
المصدر: Human Mutation. 40(12)
مصطلحات موضوعية: Genetics, Aetiology, 2.1 Biological and endogenous factors, ATP-Binding Cassette Transporters, Alternative Splicing, Gene Expression Regulation, HEK293 Cells, Humans, Introns, Mutation, Phenotype, RNA Splice Sites, Retinal Diseases, Sequence Analysis, DNA, ABCA4, deep-intronic variants, noncanonical splice site variant, splice enhancers, splice silencers, Stargardt disease, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4pv716bwTest
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7مؤتمر
المؤلفون: Panneman, Daan, Roosing, Susanne, Boonen, Erica, Inglehearn, Chris, McKibbin, Martin, De Baere, Elfride, de Ravel, Thomy, Vermeer, Sascha, Vincent, Andrea, Koenekoop, Robert, Cremers, Frans
المصدر: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE ; ISSN: 0146-0404 ; ISSN: 1552-5783
مصطلحات موضوعية: Medicine and Health Sciences
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01HTY9A9E91FFG43ENSPSJXT69Test; http://hdl.handle.net/1854/LU-01HTY9A9E91FFG43ENSPSJXT69Test; https://biblio.ugent.be/publication/01HTY9A9E91FFG43ENSPSJXT69/file/01HWA78NA0JBKDGNRE7717J0BBTest
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8دورية أكاديمية
المؤلفون: Li, Lin, Jiao, Xiaodong, D'Atri, Ilaria, Ono, Fumihito, Nelson, Ralph, Chan, Chi-Chao, Nakaya, Naoki, Ma, Zhiwei, Ma, Yan, Cai, Xiaoying, Zhang, Longhua, Lin, Siying, Hameed, Abdul, Chioza, Barry A, Hardy, Holly, Arno, Gavin, Hull, Sarah, Khan, Muhammad Imran, Fasham, James, Harlalka, Gaurav V, Michaelides, Michel, Moore, Anthony T, Coban Akdemir, Zeynep Hande, Jhangiani, Shalini, Lupski, James R, Cremers, Frans PM, Qamar, Raheel, Salman, Ahmed, Chilton, John, Self, Jay, Ayyagari, Radha, Kabir, Firoz, Naeem, Muhammad Asif, Ali, Muhammad, Akram, Javed, Sieving, Paul A, Riazuddin, Sheikh, Baple, Emma L, Riazuddin, S Amer, Crosby, Andrew H, Hejtmancik, J Fielding
المصدر: PLoS genetics. 14(8)
مصطلحات موضوعية: Retina, Cell Line, Cytoplasm, Animals, Mice, Knockout, Zebrafish, Humans, Mice, Retinitis Pigmentosa, Chloride Channels, Eye Proteins, Homozygote, Mutation, Missense, Asian Continental Ancestry Group, Pakistan, Retinal Rod Photoreceptor Cells, Retinal Cone Photoreceptor Cells, HEK293 Cells, Neurodegenerative, Eye Disease and Disorders of Vision, Genetics, Neurosciences, Rare Diseases, 2.1 Biological and endogenous factors, Eye, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0ps3f4k7Test
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9دورية 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: Corradi , Z , Khan , M , ABCA4-Study Group , Hitti-Malin , R , Mishra , K , Whelan , L , Cornelis , S S , Hoyng , C B , Kämpjärvi , K , Klaver , C C W , Liskova , P , Stöhr , H , Weber , B H F , Banfi , S , Farrar , G J , Sharon , D , Zernant , J , Allikmets , R , Dhaenens , C M & Cremers , F P M 2023 , ' Targeted sequencing and in vitro splice assays shed ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.xhgg.2023.100237Test
https://pure.eur.nl/en/publications/68836560-b1e8-499d-b054-711b76f7c651Test
https://pure.eur.nl/ws/files/102083416/Targeted_sequencing_and_in_vitro_splice_assays_shed_light_on_ABCA4-associated_retinopathies_missing_heritability.pdfTest
http://www.scopus.com/inward/record.url?scp=85171982571&partnerID=8YFLogxKTest -
10دورية 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., Pennings, Ronald J.E., Aben, Marco, Oostrik, Jaap, Astuti, Galuh D.N., Corominas Galbany, Jordi, Kroes, Hester Y., Phan, Milan, van Zelst-Stams, Wendy A.G., Thiadens, Alberta A.H.J., Verheij, Joke B.G.M., van Schooneveld, Mary J., de Bruijn, Suzanne E., Li, Catherina H.Z., Hoyng, Carel B., Gilissen, Christian, Vissers, Lisenka E.L.M., Cremers, Frans P.M., Kremer, Hannie, van Wijk, Erwin, Roosing, Susanne
المصدر: Reurink , J , Weisschuh , N , Garanto , A , Dockery , A , van den Born , L I , Fajardy , I , Haer-Wigman , L , Kohl , S , Wissinger , B , Farrar , G J , Ben-Yosef , T , Pfiffner , F K , Berger , W , Weener , M E , Dudakova , L , Liskova , P , Sharon , D , Salameh , M , Offenheim , A , Heon , E , Girotto , G , Gasparini , P , Morgan , A , Bergen ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.xhgg.2023.100181Test
https://pure.eur.nl/en/publications/3e0c7520-107b-4484-a38e-c377b49c0c65Test
https://pure.eur.nl/ws/files/81781165/Whole_genome_sequencing_for_USH2A_associated_disease_reveals_several_pathogenic_deep_intronic_variants_that_are_amenable_to_splice_correction.pdfTest
http://www.scopus.com/inward/record.url?scp=85147338454&partnerID=8YFLogxKTest
