المؤلفون: Daich Varela, Malena, Georgiou, Michalis, Alswaiti, Yahya, Kabbani, Jamil, Fujinami, Kaoru, Fujinami-Yokokawa, Yu, Khoda, Shaheeni, Mahroo, Omar A., Robson, Anthony G., Webster, Andrew R., AlTalbishi, Alaa, Michaelides, Michel

المساهمون: National Institute for Health Research, UCL Institute of Ophthalmology, University College London, Wellcome Trust, Moorfields Eye Hospital NHS Foundation Trust, NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research

المصدر: American Journal of Ophthalmology ; volume 246, page 107-121 ; ISSN 0002-9394

الاتاحة: http://dx.doi.org/10.1016/j.ajo.2022.09.002
https://api.elsevier.com/content/article/PII:S0002939422003531?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002939422003531?httpAccept=text/plain

المؤلفون: Varela, Malena Daich, Georgiou, Michalis, Alswaiti, Yahya, Kabbani, Jamil, Fujinami, Kaoru, Fujinami-Yokokawa, Yu, Khoda, Shaheeni, Mahroo, Omar A, Robson, Anthony G, Webster, Andrew R, AlTalbishi, Alaa, Michaelides, Michel

المصدر: American Journal of Ophthalmology (2022) (In press).

مصطلحات موضوعية: CRB1, Early Onset Severe Retinal Dystrophy, LCA, RP, fundus autofluorescence, gene therapy, genotype, macular dystrophy, optical coherence tomography, phenotype, retinal dystrophy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10156028/1/Fujinami_CRB1-associated%20Retinal%20Dystrophies_Pre-proof.pdf; https://discovery.ucl.ac.uk/id/eprint/10156028/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10156028/1/Fujinami_CRB1-associated%20Retinal%20Dystrophies_Pre-proof.pdf
https://discovery.ucl.ac.uk/id/eprint/10156028/

المؤلفون: Shalabi, Orjowan, Nazzal, Zaher, Natsheh, Muath, Iriqat, Salam, Michaelides, Michel, Ghanem, Muyassar, Aslanian, Alice, Alswaiti, Yahya, AlTalbishi, Alaa

المصدر: BMC Ophthalmology ; volume 21, issue 1 ; ISSN 1471-2415

الاتاحة: http://dx.doi.org/10.1186/s12886-021-02047-6
https://link.springer.com/content/pdf/10.1186/s12886-021-02047-6.pdf
https://link.springer.com/article/10.1186/s12886-021-02047-6/fulltext.html

المؤلفون: Khan, Mubeen, Cornelis, Stéphanie S., Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J.F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C.W., Kousal, Bohdan, Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D., Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc

المصدر: Khan , M , Cornelis , S S , Pozo-Valero , M D , Whelan , L , Runhart , E H , Mishra , K , Bults , F , AlSwaiti , Y , AlTalbishi , A , De Baere , E , Banfi , S , Banin , E , Bauwens , M , Ben-Yosef , T , Boon , C J F , van den Born , L I , Defoort , S , Devos , A , Dockery , A , Dudakova , L , Fakin , A , Farrar , G J , Sallum ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/bab1c9e9-d1fb-4e51-87af-36f1f8bca277
https://doi.org/10.1038/s41436-020-0787-4
https://pure.eur.nl/ws/files/82295359/PIIS1098360021011837.pdf
http://www.scopus.com/inward/record.url?scp=85083673696&partnerID=8YFLogxK

المؤلفون: Khan, Mubeen, Cornelis, Stéphanie S., Del Pozo Valero, Marta, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben Yosef, Tamar, Boon, Camiel J. F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G. Jane, Ferraz Sallum, Juliana Maria, Fujinami, Kaoru, Gilissen, Christian, Glavac, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C. W., Kousal, Bohdan, Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D., Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo Luis, Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M., van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, De Roach, John N., Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H. F., Dhaenens, Claire Marie, Cremers, Frans P. M.

مصطلحات موضوعية: ABCA4, DEEP-INTRONIC VARIANTS, SMMIPS, STARGARDT DISEASE, STRUCTURAL VARIANTS, https://purl.org/becyt/ford/3.2, https://purl.org/becyt/ford/3

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/doi/; http://hdl.handle.net/11336/140677; Khan, Mubeen; Cornelis, Stéphanie S.; Del Pozo Valero, Marta; Whelan, Laura; Runhart, Esmee H.; et al.; Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics; Lippincott Williams; Genetics In Medicine; 22; 7; 7-2020; 1235-1246; CONICET Digital; CONICET

الاتاحة: http://hdl.handle.net/11336/140677

المؤلفون: Khan, Mubeen, Cornelis, Stéphanie S., del Pozo-Valero, Marta, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan, Bults, Femke, AlSwaiti, Yahya, AlTabishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J.F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G. Jane, Ferraz Sallum, Juliana Maria, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje, Hoischen, Alexander, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C.W., Kousal, Bohdan, Lamey, Tina, MacDonald, Ian M., Matynia, Anna, McLaren, Terri, Mena, Marcela D., Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M., van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, De Roach, John, Ayuso, Carmen, Roberts, Lisa, Weber, Bernard H.F., Dhaenens, Claire-Marie, Cremers, Frans P.M.

المصدر: bioRxiv

مصطلحات موضوعية: Medicine and Health Sciences

Relation: https://biblio.ugent.be/publication/8641338; http://hdl.handle.net/1854/LU-8641338; http://dx.doi.org/10.1101/817767

الاتاحة: https://biblio.ugent.be/publication/8641338
http://hdl.handle.net/1854/LU-8641338
https://doi.org/10.1101/817767