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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: Heath Jeffery, Rachael C., Lo, Johnny, Thompson, Jennifer A., Lamey, Tina M., McLaren, Terri L., De Roach, John N., Ayton, Lauren N., Vincent, Andrea L., Sharma, Abhishek, Chen, Fred K.
المصدر: Research outputs 2022 to 2026
مصطلحات موضوعية: Ellipsoid zone, Imaging biomarkers, OCT, Peripherin, Stargardt disease, Medicine and Health Sciences, Physical Sciences and Mathematics
وصف الملف: application/pdf
العلاقة: https://ro.ecu.edu.au/ecuworks2022-2026/3600Test; https://ro.ecu.edu.au/context/ecuworks2022-2026/article/4601/viewcontent/Analysis_20of_20the_20outer_20retinal_20bands_20in_20ABCA4_20and_20PRPH2.pdfTest
الإتاحة: https://doi.org/10.1016/j.oret.2023.05.010Test
https://ro.ecu.edu.au/ecuworks2022-2026/3600Test
https://ro.ecu.edu.au/context/ecuworks2022-2026/article/4601/viewcontent/Analysis_20of_20the_20outer_20retinal_20bands_20in_20ABCA4_20and_20PRPH2.pdfTest -
3دورية أكاديمية
المؤلفون: Heath Jeffery, Rachael C., Thompson, Jennifer A., Lamey, Tina M., McLaren, Terri L., De Roach, John N., McAllister, Ian L., Constable, Ian J., Chen, Fred K.
المصدر: Ophthalmology Retina ; volume 7, issue 1, page 81-91 ; ISSN 2468-6530
مصطلحات موضوعية: Ophthalmology
الإتاحة: https://doi.org/10.1016/j.oret.2022.06.017Test
https://api.elsevier.com/content/article/PII:S2468653022003256?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468653022003256?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Hitti-Malin, Rebekkah J., Panneman, Daan M., Corradi, Zelia, Boonen, Erica G. M., Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard H. F., Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G. Jane, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek P., Matynia, Anna, Gorin, Michael B., Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel B., Li, Catherina H. Z., Klaver, Caroline C. W., Inglehearn, Chris F., Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo L., Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea L., Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan M., van den Born, L. Ingeborgh, McLaren, Terri L., De Roach, John N., Lamey, Tina M., Thompson, Jennifer A., Chen, Fred K., Tracewska, Anna M., Kamakari, Smaragda, Sallum, Juliana Maria Ferraz, Bolz, Hanno J., Kayserili, Hülya, Roosing, Susanne, Cremers, Frans P. M.
المساهمون: Hitti-Malin, Rebekkah J., Panneman, Daan M., Corradi, Zelia, Boonen, Erica G. M., Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard H. F., Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G. Jane, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek P., Matynia, Anna, Gorin, Michael B., Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel B., Li, Catherina H. Z., Klaver, Caroline C. W., Inglehearn, Chris F., Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo L., Fakin, Ana, Sajovic, Jana, Altalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea L., Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan M., van den Born, L. Ingeborgh, Mclaren, Terri L., De Roach, John N., Lamey, Tina M., Thompson, Jennifer A., Chen, Fred K., Tracewska, Anna M., Kamakari, Smaragda, Sallum, Juliana Maria Ferraz, Bolz, Hanno J., Kayserili, Hülya, Roosing, Susanne, Cremers, Frans P. M.
مصطلحات موضوعية: maculopathies, macula, retinal, inherited, sequencing, penetrance
العلاقة: volume:14; issue:3; journal:BIOMOLECULES; https://hdl.handle.net/11591/522988Test
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5دورية أكاديمية
المؤلفون: Heath Jeffery, Rachael C., Thompson, Jennifer A., Lo, Johnny, Lamey, Tina M., McLaren, Terri L., De Roach, John N., Azamanov, Dimitar N., McAllister, Ian L., Constable, Ian J., Chen, Fred K.
المصدر: Research outputs 2022 to 2026
مصطلحات موضوعية: ABCA4-associated retinopathy, clinical trial end point, inherited retinal disease, macular dystrophy, retinal dystrophy, retinal imaging, Diseases, Eye Diseases, Medicine and Health Sciences
وصف الملف: application/pdf
العلاقة: https://ro.ecu.edu.au/ecuworks2022-2026/1060Test; https://ro.ecu.edu.au/cgi/viewcontent.cgi?article=2060&context=ecuworks2022-2026Test
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6دورية أكاديميةSurvey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia
المؤلفون: Mack, Heather G., Britten-Jones, Alexis Ceecee, McGuinness, Myra B., Chen, Fred K., Grigg, John R., Jamieson, Robyn V., Edwards, Thomas L., De Roach, John, O’Hare, Fleur, Martin, Keith R., Ayton, Lauren N.
المساهمون: Retina Australia, grant not numbered, Department of Health | National Health and Medical Research Council, Victorian State Government Operational Infrastructure Support Program. Grant not numbered., Retina Australia, grant not numbered.
المصدر: Gene Therapy ; volume 30, issue 3-4, page 336-346 ; ISSN 0969-7128 1476-5462
مصطلحات موضوعية: Genetics, Molecular Biology, Molecular Medicine
الإتاحة: https://doi.org/10.1038/s41434-022-00364-zTest
https://www.nature.com/articles/s41434-022-00364-z.pdfTest
https://www.nature.com/articles/s41434-022-00364-zTest -
7دورية أكاديمية
المؤلفون: Huang, Di, Thompson, Jennifer A., Chen, Shang-Chih, Adams, Abbie, Pitout, Ianthe, Lima, Alanis, Zhang, Dan, Jeffery, Rachael C. Heath, Attia, Mary S., McLaren, Terri L., Lamey, Tina M., De Roach, John N., McLenachan, Samuel, Aung-Htut, May Thandar, Fletcher, Sue, Wilton, Steve D., Chen, Fred K.
المصدر: Experimental Eye Research ; volume 225, page 109276 ; ISSN 0014-4835
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Sensory Systems, Ophthalmology
الإتاحة: https://doi.org/10.1016/j.exer.2022.109276Test
https://api.elsevier.com/content/article/PII:S0014483522003578?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0014483522003578?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Heath Jeffery, Rachael C., Thompson, Jennifer A., Lo, Johnny, Lamey, Tina M., McLaren, Terri L., McAllister, Ian L., Constable, Ian J., De Roach, John N., Chen, Fred K.
المصدر: Research outputs 2014 to 2021
مصطلحات موضوعية: ABCA4, Fundus autofluorescence, Growth rate, Natural history study, Stargardt disease, Life Sciences, Medicine and Health Sciences, Physical Sciences and Mathematics
وصف الملف: application/pdf
العلاقة: https://ro.ecu.edu.au/ecuworkspost2013/11721Test; https://ro.ecu.edu.au/cgi/viewcontent.cgi?article=12727&context=ecuworkspost2013Test
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9دورية أكاديمية
المؤلفون: Zhang, Xiao, Zhang, Dan, Thompson, Jennifer A., Chen, Shang‐Chih, Huang, Zhiqin, Jennings, Luke, McLaren, Terri L., Lamey, Tina M., De Roach, John N., Chen, Fred K., McLenachan, Samuel
المساهمون: National Health and Medical Research Council, Department of Health, Government of Western Australia, Retina Australia
المصدر: Molecular Genetics & Genomic Medicine ; volume 9, issue 3 ; ISSN 2324-9269 2324-9269
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10دورية أكاديمية
المؤلفون: Heath Jeffery, Rachael C., Thompson, Jennifer A., Lamey, Tina M., McLaren, Terri L., McAllister, Ian L., Constable, Ian J., Mackey, David A., De Roach, John N., Chen, Fred K.
المصدر: Retina ; volume 41, issue 12, page 2578-2588 ; ISSN 0275-004X