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1Book
المؤلفون: ריין, רענן, 1960-, Rein, Raanan, 1960-, ריין, רענן, 1960-, Sharon, Dror, שרון, דרור
المساهمون: שרון, דרור
المصدر: ישראל; כתב עת לחקר הציונות ומדינת ישראל - היסטוריה, תרבות, חברה. 31-32 (תשפד) 121-148
مصطلحات موضوعية: Women and war, Communists -- History -- Israel -- 20th century, Anti-fascist movements -- History -- Israel
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2Academic Journal
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
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3Academic Journal
المؤلفون: Igelman, Austin D, White, Elizabeth, Tayyib, Alaa, Everett, Lesley, Vincent, Ajoy, Heon, Elise, Zeitz, Christina, Michaelides, Michel, Mahroo, Omar A, Katta, Mohamed, Webster, Andrew, Preising, Markus, Lorenz, Birgit, Khateb, Samer, Banin, Eyal, Sharon, Dror, Luski, Shahar, Van Den Broeck, Filip, Leroy, Bart Peter, De Baere, Elfride, Walraedt, Sophie, Stingl, Katarina, Kuehlewein, Laura, Kohl, Susanne, Reith, Milda, Fulton, Anne, Raghuram, Aparna, Meunier, Isabelle, Dollfus, Hélène, Aleman, Tomas S, Bedoukian, Emma C, O'Neil, Erin C, Krauss, Emily, Vincent, Andrea, Jordan, Charlotte, Iannaccone, Alessandro, Sen, Parveen, Sundaramurthy, Srilekha, Nagasamy, Soumittra, Balikova, Irina, Casteels, Ingele, Borooah, Shyamanga, Yassin, Shaden, Nagiel, Aaron, Schwartz, Hillary, Zanlonghi, Xavier, Gottlob, Irene, McLean, Rebecca J, Munier, Francis L, Stephenson, Andrew, Sisk, Robert, Koenekoop, Robert, Wilson, Lorri B, Fredrick, Douglas, Choi, Dongseok, Yang, Paul, Pennesi, Mark Edward
المصدر: British Journal of Ophthalmology (2024) (In press).
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10196790/2/Mahroo_Characterising%20the%20refractive%20error%20in%20paediatric%20patients%20with%20congenital%20stationary%20night%20blindness_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10196790/
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4Academic Journal
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
Relation: https://discovery.ucl.ac.uk/id/eprint/10191303/1/Mild_ABCA4_variants_women_metaanalysis_accepted_version.pdf; https://discovery.ucl.ac.uk/id/eprint/10191303/
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5Academic Journal
المؤلفون: de Guimaraes, Thales A C, Georgiou, Michalis, Robson, Anthony G, Fujinami, Kaoru, Vincent, Ajoy, Nasser, Fadi, Khateb, Samer, Mahroo, Omar A, Pontikos, Nikolas, Vargas, Maurício E, Thiadens, Alberta A H J, Carvalho, Emanuel R de, Nguyen, Xuan-Than-An, Arno, Gavin, Fujinami-Yokokawa, Yu, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Jiménez-Rolando, Belén, Martin-Merida, Maria Inmaculada, Avila-Fernandez, Almudena, Salas, Ester Carreño, Garcia-Sandoval, Blanca, Ayuso, Carmen, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M, Banin, Eyal, Pennesi, Mark E, Khan, Arif O, Wissinger, Bernd, Webster, Andrew R, Heon, Elise, Boon, Camiel J F, Zrenner, Eberhard, Michaelides, Michel
مصطلحات موضوعية: Retina
وصف الملف: text/html
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6Academic Journal
المؤلفون: Hayman, Tamar, Millo, Talya, Hendler, Karen, Chowers, Itay, Gross, Menachem, Banin, Eyal, Sharon, Dror
مصطلحات موضوعية: Genotype-phenotype correlations
وصف الملف: text/html
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7Academic Journal
المؤلفون: Schneider, Nina, Steinberg, Ricky, Ben-David, Amit, Valensi, Johanna, David-Kadoch, Galit, Rosenwasser, Zohar, Banin, Eyal, Levanon, Erez Y., Sharon, Dror, Ben-Aroya, Shay
المساهمون: Israel Science Foundation
المصدر: Molecular Therapy - Nucleic Acids ; volume 35, issue 1, page 102130 ; ISSN 2162-2531
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8Academic Journal
المؤلفون: Thompson, Debra A, Iannaccone, Alessandro, Ali, Robin R, Arshavsky, Vadim Y, Audo, Isabelle, Bainbridge, James WB, Besirli, Cagri G, Birch, David G, Branham, Kari E, Cideciyan, Artur V, Daiger, Steven P, Dalkara, Deniz, Duncan, Jacque L, Fahim, Abigail T, Flannery, John G, Gattegna, Roberto, Heckenlively, John R, Heon, Elise, Jayasundera, K Thiran, Khan, Naheed W, Klassen, Henry, Leroy, Bart P, Molday, Robert S, Musch, David C, Pennesi, Mark E, Petersen-Jones, Simon M, Pierce, Eric A, Rao, Rajesh C, Reh, Thomas A, Sahel, Jose A, Sharon, Dror, Sieving, Paul A, Strettoi, Enrica, Yang, Paul, Zacks, David N
المصدر: Translational Vision Science & Technology. 9(7)
مصطلحات موضوعية: Eye Disease and Disorders of Vision, Clinical Research, Neurosciences, Orphan Drug, Rare Diseases, Clinical Trials and Supportive Activities, Networking and Information Technology R&D (NITRD), 8.4 Research design and methodologies (health services), Health and social care services research, Generic health relevance, Good Health and Well Being, Humans, Precision Medicine, Retina, Retinal Diseases, inherited retinal diseases, clinical trials, natural history studies, outcome measures, counseling patients, Monaciano Consortium, Biomedical Engineering, Opthalmology and Optometry
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6dv9w4tm
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9Academic Journal
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
المساهمون: 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
مصطلحات موضوعية: USH2A, Usher syndrome, antisense oligonucleotide, minigene splice assay, photoreceptor precursor cell, pseudoexon, retinitis pigmentosa, splicing, usherin, whole genome sequencing
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/36785559; info:eu-repo/semantics/altIdentifier/wos/WOS:000932292800001; volume:4; issue:2; firstpage:"-"; lastpage:"-"; numberofpages:16; journal:HGG ADVANCES; https://hdl.handle.net/11368/3072441; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85147338454; https://www.sciencedirect.com/science/article/pii/S2666247723000131?via=ihub; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9918427/
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10Book
المؤلفون: Sharon, Dror
المصدر: Untold Stories of the Spanish Civil War ; page 128-154 ; ISBN 9781003414353
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11Academic Journal
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
الاتاحة: https://pure.eur.nl/en/publications/68836560-b1e8-499d-b054-711b76f7c651
https://doi.org/10.1016/j.xhgg.2023.100237
https://pure.eur.nl/ws/files/102083416/Targeted_sequencing_and_in_vitro_splice_assays_shed_light_on_ABCA4-associated_retinopathies_missing_heritability.pdf
http://www.scopus.com/inward/record.url?scp=85171982571&partnerID=8YFLogxK -
12Academic Journal
المؤلفون: de Guimaraes, Thales AC, Georgiou, Michalis, Robson, Anthony G, Fujinami, Kaoru, Vincent, Ajoy, Nasser, Fadi, Khateb, Samer, Mahroo, Omar A, Pontikos, Nikolas, Vargas, Maurício E, Thiadens, Alberta AHJ, Carvalho, Emanuel R de, Nguyen, Xuan-Than-An, Arno, Gavin, Fujinami-Yokokawa, Yu, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Jiménez-Rolando, Belén, Martin-Merida, Maria Inmaculada, Avila-Fernandez, Almudena, Salas, Ester Carreño, Garcia-Sandoval, Blanca, Ayuso, Carmen, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M, Banin, Eyal, Pennesi, Mark E, Khan, Arif O, Wissinger, Bernd, Webster, Andrew R, Heon, Elise, Boon, Camiel JF, Zrenner, Eberhard, Michaelides, Michel
المصدر: British Journal of Ophthalmology (2023) (In press).
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10179384/1/bjo-2023-323640.full.pdf; https://discovery.ucl.ac.uk/id/eprint/10179384/
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13Academic Journal
المؤلفون: de Bruijn, Suzanne E., Rodenburg, Kim, Corominas, Jordi, Ben-Yosef, Tamar, Reurink, Janine, Kremer, Hannie, Whelan, Laura, Plomp, Astrid S., Berger, Wolfgang, Farrar, G. Jane, Kovács, Árpád Ferenc, Fajardy, Isabelle, Hitti-Malin, Rebekkah J., Weisschuh, Nicole, Weener, Marianna E., Sharon, Dror, Pennings, Ronald J.E., Haer-Wigman, Lonneke, Hoyng, Carel B., Nelen, Marcel R.
المصدر: Genetics in Medicine, 25 (3)
مصطلحات موضوعية: Inherited retinal diseases, Optical genome mapping, Next-generation sequencing, Short-read genome sequencing, Structural variants
وصف الملف: application/application/pdf
Relation: info:eu-repo/semantics/altIdentifier/wos/001037209300001; http://hdl.handle.net/20.500.11850/601190
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14Academic Journal
المؤلفون: Matsevich, Chen, Gopalakrishnan, Prakadeeswari, Obolensky, Alexey, Banin, Eyal, Sharon, Dror, Beryozkin, Avigail
المصدر: Ophthalmology Science ; volume 3, issue 1, page 100229 ; ISSN 2666-9145
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15Academic JournalA Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa.
المؤلفون: Elasal, Maria Abu, Khateb, Samer, Panneman, Daan M., Roosing, Susanne, Cremers, Frans P. M., Banin, Eyal, Sharon, Dror, Sarma, Asodu Sandeep
المصدر: Genes; Nov2024, Vol. 15 Issue 11, p1363, 10p
مصطلحات موضوعية: RETINITIS pigmentosa, VISION disorders, RETINAL diseases, GENETIC variation, GENETIC disorders
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16Academic JournalWorldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
المؤلفون: Hanany, Mor, Rivolta, Carlo, Sharon, Dror
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 Feb 01. 117(5), 2710-2716.
URL الوصول: https://www.jstor.org/stable/26928873
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17Academic Journal
المؤلفون: Biswas, Pooja, Chavali, Venkata Ramana Murthy, Agnello, Giulia, Stone, Everett, Chakarova, Christina, Duncan, Jacque L, Kannabiran, Chitra, Homsher, Melissa, Bhattacharya, Shomi S, Naeem, Muhammad Asif, Kimchi, Adva, Sharon, Dror, Iwata, Takeshi, Riazuddin, Shaikh, Reddy, G Bhanuprakash, Hejtmancik, J Fielding, Georgiou, George, Riazuddin, S Amer, Ayyagari, Radha
المصدر: Human Molecular Genetics. 25(12)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Eye Disease and Disorders of Vision, Neurosciences, Neurodegenerative, Rare Diseases, 2.1 Biological and endogenous factors, Eye, Adult, Animals, Asparaginase, Autoantigens, Disease Models, Animal, Exome, Genetic Linkage, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Missense, Pedigree, Phenotype, Retina, Retinal Cone Photoreceptor Cells, Retinal Degeneration, Visual Acuity, Zebrafish, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
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18Academic Journal
المؤلفون: Beryozkin, Avigail, Samanta, Ananya, Gopalakrishnan, Prakadeeswari, Khateb, Samer, Banin, Eyal, Sharon, Dror, Nagel-Wolfrum, Kerstin
المصدر: International Journal of Molecular Sciences. 23. -. 2022. -. -. 3541
مصطلحات موضوعية: ddc:570
Relation: http://doi.org/10.25358/openscience-8831; https://openscience.ub.uni-mainz.de/handle/20.500.12030/8847
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19Academic Journal
المؤلفون: Ben-Avi, Ravid, Rivera, Antonio, Hendler, Karen, Sharon, Dror, Banin, Eyal, Khateb, Samer, Yahalom, Claudia
المصدر: European Journal of Ophthalmology ; volume 33, issue 2, page 1109-1115 ; ISSN 1120-6721 1724-6016
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20Academic Journal
المؤلفون: Millo, Talya, Rivera, Antonio, Obolensky, Alexey, Marks-Ohana, Devora, Xu, Mingchu, Li, Yumei, Wilhelm, Enosh, Gopalakrishnan, Prakadeeswari, Gross, Menachem, Rosin, Boris, Hanany, Mor, Webster, Andrew, Tracewska, Anna Maria, Koenekoop, Robert K., Chen, Rui, Arno, Gavin, Schueler-Furman, Ora, Roosing, Susanne, Banin, Eyal, Sharon, Dror
المصدر: Genetics in Medicine ; volume 24, issue 7, page 1523-1535 ; ISSN 1098-3600