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1Academic Journal
المؤلفون: Karjosukarso, Dyah W., Bukkems, Femke, Duijkers, Lonneke, Tomkiewicz, Tomasz Z., Kiefmann, Julia, Sarlea, Andrei, Bervoets, Sander, Vázquez-Domínguez, Irene, Molday, Laurie L., Molday, Robert S., Netea, Mihai G., Hoyng, Carel B., Garanto, Alejandro, Collin, Rob W. J.
المساهمون: Foundation Fighting Blindness
المصدر: Communications Medicine ; volume 5, issue 1 ; ISSN 2730-664X
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2Academic Journal
المؤلفون: Hendricks, Jessie M., Metz, Juriaan R., Boss, H. Myrthe, Collin, Rob W. J., de Vrieze, Erik, van Wijk, Erwin
المصدر: Journal of Sleep Research ; ISSN 0962-1105 1365-2869
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3Academic Journal
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
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4Academic Journal
المؤلفون: Vázquez-Domínguez, Irene, Anido, Alejandro Allo, Duijkers, Lonneke, Hoppenbrouwers, Tamara, Hoogendoorn, Anita D M, Koster, Céline, Collin, Rob W J, Garanto, Alejandro
المساهمون: Foundation Fighting Blindness USA Project Program Award
المصدر: Nucleic Acids Research ; ISSN 0305-1048 1362-4962
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5Academic Journal
المؤلفون: Faber, Siebren, Mercey, Olivier, Junger, Katrin, Garanto, Alejandro, May-Simera, Helen, Ueffing, Marius, Collin, Rob W. J., Boldt, Karsten, Guichard, Paul, Hamel, Virginie, Roepman, Ronald
المصدر: ISSN: 2379-3708 ; JCI insight, vol. 8, no. 10 (2023) e169162.
مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Cell Biology, Gene therapy, Genetics, Molecular genetics, Retinopathy
Relation: info:eu-repo/semantics/altIdentifier/pmid/37071472; https://archive-ouverte.unige.ch/unige:175699; unige:175699
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6Academic Journal
المساهمون: Marie Sklodowska-Curie Innovative Training Networks
المصدر: Human Molecular Genetics ; volume 32, issue 21, page 3078-3089 ; ISSN 0964-6906 1460-2083
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7Academic Journal
المؤلفون: Corral-Serrano, Julio C., Lamers, Ideke J. C., van Reeuwijk, Jeroen, Duijkers, Lonneke, Hoogendoorn, Anita D. M., Yildirim, Adem, Argyrou, Nikoleta, Ruigrok, Renate A. A., Letteboer, Stef J. F., Butcher, Rossano, van Essen, Max D., Sakami, Sanae, van Beersum, Sylvia E. C., Palczewski, Krzysztof, Cheetham, Michael E., Liu, Qin, Boldt, Karsten, Wolfrum, Uwe, Ueffing, Marius, Garanto, Alejandro, Roepman, Ronald, Collin, Rob W. J.
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 May 01. 117(18), 9922-9931.
URL الوصول: https://www.jstor.org/stable/26930032
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8Book
المصدر: Methods in Molecular Biology ; Antisense RNA Design, Delivery, and Analysis ; page 145-165 ; ISSN 1064-3745 1940-6029 ; ISBN 9781071620090 9781071620106
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9Academic Journal
المؤلفون: Vázquez-Domínguez, Irene, Duijkers, Lonneke, Fadaie, Zeinab, Alaerds, Eef C W, Post, Merel A, van Oosten, Edwin M, O'Gorman, Luke, Kwint, Michael, Koolen, Louet, Hoogendoorn, Anita D M, Kroes, Hester Y, Gilissen, Christian, Cremers, Frans P M, Collin, Rob W J, Roosing, Susanne, Garanto, Alejandro
المساهمون: Genetica Klinische Genetica, Child Health
مصطلحات موضوعية: Leber congenital amaurosis, RPE65 gene, cell-specific defects, iPSC-derived models, induced pluripotent stem cells (iPSCs), inherited retinal diseases, retinal pigment epithelium (RPE), General Biochemistry,Genetics and Molecular Biology
وصف الملف: application/pdf
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10Academic Journal
المؤلفون: Català, Pere, Thuret, Gilles, Skottman, Heli, Mehta, Jodhbir S, Parekh, Mohit, Ní Dhubhghaill, Sorcha, Collin, Rob W J, Nuijts, Rudy M M A, Ferrari, Stefano, LaPointe, Vanessa L S, Dickman, Mor M
المصدر: Català , P , Thuret , G , Skottman , H , Mehta , J S , Parekh , M , Ní Dhubhghaill , S , Collin , R W J , Nuijts , R M M A , Ferrari , S , LaPointe , V L S & Dickman , M M 2022 , ' Approaches for corneal endothelium regenerative medicine ' , Progress in Retinal and Eye Research , vol. 87 , 100987 . https://doi.org/10.1016/j.preteyeres.2021.100987
مصطلحات موضوعية: CARRIER MATRIX, Cell therapy, Corneal endothelial disease, DESCEMET MEMBRANE, DIRECTED DIFFERENTIATION, EMBRYONIC STEM-CELLS, Gene therapy, IN-VITRO, PENETRATING KERATOPLASTY, Pharmacological modulation, RHO-KINASE INHIBITOR, ROCK INHIBITOR, Regenerative medicine, SHEET TRANSPLANTATION, Tissue engineering, VIRAL VECTORS
الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/fb87eafd-4e4d-4410-ba36-41212515828e
https://doi.org/10.1016/j.preteyeres.2021.100987 -
11Academic Journal
المؤلفون: Russell, Stephen R., Drack, Arlene V., Cideciyan, Artur V., Jacobson, Samuel G., Leroy, Bart, Van Cauwenbergh, Caroline, Ho, Allen C., Dumitrescu, Alina V., Han, Ian C., Martin, Mitchell, Pfeifer, Wanda L., Sohn, Elliott H., Walshire, Jean, Garafalo, Alexandra V., Krishnan, Arun K., Powers, Christian A., Sumaroka, Alexander, Roman, Alejandro J., Vanhonsebrouck, Eva, Jones, Eltanara, Nerinckx, Fanny, De Zaeytijd, Julie, Collin, Rob W. J., Hoyng, Carel, Adamson, Peter, Cheetham, Michael E., Schwartz, Michael R., den Hollander, Wilhelmina, Asmus, Friedrich, Platenburg, Gerard, Rodman, David, Girach, Aniz
المصدر: NATURE MEDICINE ; ISSN: 1078-8956 ; ISSN: 1546-170X
مصطلحات موضوعية: Medicine and Health Sciences, General Biochemistry, Genetics and Molecular Biology, General Medicine
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/01GQHZHQ11SGXFGPEZPZES2FC0; https://biblio.ugent.be/publication/01GQHZHQ11SGXFGPEZPZES2FC0/file/01GQHZK08AK5NTXPPZP7PFY1KV
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12Academic JournalPCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion
المؤلفون: Afanasyeva, Tess A V, Schnellbach, Yan-Ting, Gibson, Toby J, Roepman, Ronald, Collin, Rob W J
المساهمون: ZonMW TOP, Foundation Fighting Blindness, Landelijke Stichting voor Blinden en Slechtzienden, Stichting Steunfonds Uitzicht
المصدر: Human Molecular Genetics ; volume 31, issue 15, page 2560-2570 ; ISSN 0964-6906 1460-2083
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine
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13Academic Journal
المؤلفون: Corradi, Zelia, Hitti-Malin, Rebekkah J., de Rooij, Laura A., Garanto, Alejandro, Collin, Rob W. J., Cremers, Frans P. M.
المصدر: Nucleic Acid Therapeutics; Jun2024, Vol. 34 Issue 3, p125-133, 9p
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14
المؤلفون: Karjosukarso, Dyah W., Ali, Zaheer, Peters, Theo A., Zhang, Jia Qi Cheng, Hoogendoorn, Anita D. M., Garanto, Alejandro, van Wijk, Erwin, Jensen, Lasse, Collin, Rob W. J.
المصدر: Investigative Ophthalmology and Visual Science. 61(2)
مصطلحات موضوعية: CRISPR/Cas9, FEVR, retinal vasculature, zebrafish, znf408
وصف الملف: electronic
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15Academic Journal
المؤلفون: Hammond, Suzan M, Aartsma-Rus, Annemieke, Alves, Sandra, Borgos, Sven E, Buijsen, Ronald A M, Collin, Rob W J, Covello, Giuseppina, Denti, Michela A, Desviat, Lourdes R, Echevarría, Lucía, Foged, Camilla, Gaina, Gisela, Garanto, Alejandro, Goyenvalle, Aurelie T, Guzowska, Magdalena, Holodnuka, Irina, Jones, David R, Krause, Sabine, Lehto, Taavi, Montolio, Marisol, Van Roon-Mom, Willeke, Arechavala-Gomeza, Virginia
المصدر: Hammond , S M , Aartsma-Rus , A , Alves , S , Borgos , S E , Buijsen , R A M , Collin , R W J , Covello , G , Denti , M A , Desviat , L R , Echevarría , L , Foged , C , Gaina , G , Garanto , A , Goyenvalle , A T , Guzowska , M , Holodnuka , I , Jones , D R , Krause , S , Lehto , T , Montolio , M , Van Roon-Mom , W & Arechavala-Gomeza , V 2021 ....
وصف الملف: application/pdf
الاتاحة: https://researchprofiles.ku.dk/da/publications/delivery-of-oligonucleotidebased-therapeutics(f45dfef3-fb8e-4b80-b0ff-f8670c6cdc35).html
https://doi.org/10.15252/emmm.202013243
https://curis.ku.dk/ws/files/261614593/emmm.202013243.pdf -
16Academic Journal
المؤلفون: Afanasyeva, Tess A. V., Corral-Serrano, Julio C., Garanto, Alejandro, Roepman, Ronald, Cheetham, Michael E., Collin, Rob W. J.
المساهمون: zonmw, foundation fighting blindness, proefdiervrij, uitzicht, fight for sight uk, wellcome trust, University College London
المصدر: Cellular and Molecular Life Sciences ; volume 78, issue 19-20, page 6505-6532 ; ISSN 1420-682X 1420-9071
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17Academic Journal
المؤلفون: Suárez-Herrera, Nuria, Li, Catherina H. Z., Leijsten, Nico, Karjosukarso, Dyah W., Corradi, Zelia, Bukkems, Femke, Duijkers, Lonneke, Cremers, Frans P. M., Hoyng, Carel B., Garanto, Alejandro, Collin, Rob W. J.
المصدر: Cells (2073-4409); Apr2024, Vol. 13 Issue 7, p601, 21p
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18Academic Journal
المؤلفون: Pierrache, Laurence H. M., Messchaert, Muriël, Thiadens, Alberta A. H. J., Haer-Wigman, Lonneke, de Jong-Hesse, Yvonne, van Zelst-Stams, Wendy A. G., Collin, Rob W. J., Klaver, Caroline C. W., van den Born, L. Ingeborgh
المصدر: Pierrache , L H M , Messchaert , M , Thiadens , A A H J , Haer-Wigman , L , de Jong-Hesse , Y , van Zelst-Stams , W A G , Collin , R W J , Klaver , C C W & van den Born , L I 2019 , ' Extending the spectrum of EYS-associated retinal disease to macular dystrophy ' , Investigative Ophthalmology and Visual Science , vol. 60 , no. 6 , pp. 2049-2063 . https://doi.org/10.1167/iovs.18-25531
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19Academic Journal
المؤلفون: Bauwens, Miriam, Garanto, Alejandro, Sangermano, Riccardo, Naessens, Sarah, Weisschuh, Nicole, De Zaeytijd, Julie, Khan, Mubeen, Sadler, Françoise, Balikova, Irina, Van Cauwenbergh, Caroline, Rosseel, Toon, Bauwens, Jim, De Leeneer, Kim, De Jaegere, Sarah, Van Laethem, Thalia, De Vries, Meindert, Carss, Keren, Arno, Gavin, Fakin, Ana, Webster, Andrew R, de Ravel de l'Argentière, Thomy J L, Sznajer, Yves, Vuylsteke, Marnik, Kohl, Susanne, Wissinger, Bernd, Cherry, Timothy, Collin, Rob W J, Cremers, Frans P M, Leroy, Bart P, De Baere, Elfride
المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL
المصدر: Genetics in medicine, Vol. 21, no.8, p. 1761-1771 (2019)
مصطلحات موضوعية: ATP-Binding Cassette Transporters, Adult, Alleles, Cohort Studies, Exons, Female, Gene Frequency, Genes, Recessive, HEK293 Cells, Humans, Introns, Male, Middle Aged, Mutation, Oligonucleotides, Antisense, Pedigree, Phenotype, Retinal Dystrophies, ABCA4-associated disease, AON, Deep-intronic, Missing heritability, Noncoding
Relation: boreal:244295; http://hdl.handle.net/2078.1/244295; info:pmid/30670881; urn:ISSN:1098-3600; urn:EISSN:1530-0366
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20Academic Journal
المؤلفون: Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stephanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stoehr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W. J., Cremers, Frans P. M.
المصدر: Sangermano , R , Garanto , A , Khan , M , Runhart , E H , Bauwens , M , Bax , N M , van den Born , L I , Khan , M I , Cornelis , S S , Verheij , J B G M , Pott , J-W R , Thiadens , A A H J , Klaver , C C W , Puech , B , Meunier , I , Naessens , S , Arno , G , Fakin , A , Carss , K J , Raymond , F L , Webster ....
مصطلحات موضوعية: ABCA4, antisense oligonucleotide, deep-intronic variant, missing heritability, Stargardt disease, IN-VITRO, MUTATIONS, GENE, REVEALS, POPULATION
وصف الملف: application/pdf
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