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

المؤلفون: Heath Jeffery, Rachael C., Thompson, Jennifer A., Lo, Johnny, Chelva, Enid S., Armstrong, Sean, Pulido, Jose S., Procopio, Rebecca, Vincent, Andrea L., Bianco, Lorenzo, Battaglia Parodi, Maurizio, Ziccardi, Lucia, Antonelli, Giulio, Barbano, Lucilla, Marques, João P., Geada, Sara, Carvalho, Ana L., Tang, Wei C., Chan, Choi M., Boon, Camiel J. F., Hensman, Jonathan, Chen, Ta-Ching, Lin, Chien-Yu, Chen, Pei-Lung, Vincent, Ajoy, Tumber, Anupreet, Heon, Elise, Grigg, John R., Jamieson, Robyn V., Cornish, Elisa E., Nash, Benjamin M., Borooah, Shyamanga, Ayton, Lauren N., Britten-Jones, Alexis Ceecee, Edwards, Thomas L., Ruddle, Jonathan B., Sharma, Abhishek, Porter, Rowan G., Lamey, Tina M., McLaren, Terri L., McLenachan, Samuel, Roshandel, Danial, Chen, Fred K.

المصدر: Wills Eye Hospital Papers

مصطلحات موضوعية: humans, peripherins, middle aged, adult, male, female, adolescent, retinal dystrophies, aged, visual acuity, child, young adult, electroretinography, preschool, phenotype, tomography, optical coherence, mutation, fluorescein angiography, genetic association studies, retrospective studies, DNA mutational analysis, DNA, pedigree, Genetics and Genomics

وصف الملف: application/pdf

العلاقة: https://jdc.jefferson.edu/willsfp/218Test; https://jdc.jefferson.edu/context/willsfp/article/1218/viewcontent/Retinal_Dystrophies_Associated_With_Peripherin_2.pdfTest; https://jdc.jefferson.edu/context/willsfp/article/1218/filename/0/type/additional/viewcontent/Supplementary_Material_S1.pdfTest; https://jdc.jefferson.edu/context/willsfp/article/1218/filename/1/type/additional/viewcontent/Supplementary_Material_S2.pdfTest; https://jdc.jefferson.edu/context/willsfp/article/1218/filename/2/type/additional/viewcontent/Supplementary_Material_S3.pdfTest; https://jdc.jefferson.edu/context/willsfp/article/1218/filename/3/type/additional/viewcontent/Supplementary_Material_S4.xlsxTest

الإتاحة: https://jdc.jefferson.edu/willsfp/218Test
https://jdc.jefferson.edu/context/willsfp/article/1218/viewcontent/Retinal_Dystrophies_Associated_With_Peripherin_2.pdfTest
https://jdc.jefferson.edu/context/willsfp/article/1218/filename/0/type/additional/viewcontent/Supplementary_Material_S1.pdfTest
https://jdc.jefferson.edu/context/willsfp/article/1218/filename/1/type/additional/viewcontent/Supplementary_Material_S2.pdfTest
https://jdc.jefferson.edu/context/willsfp/article/1218/filename/2/type/additional/viewcontent/Supplementary_Material_S3.pdfTest
https://jdc.jefferson.edu/context/willsfp/article/1218/filename/3/type/additional/viewcontent/Supplementary_Material_S4.xlsxTest

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

المؤلفون: Heath Jeffery, Rachael C., Lo, Johnny, Thompson, Jennifer A., Lamey, Tina M., McLaren, Terri L., DeRoach, John N., Kabilio, Miguel S., Chen, Fred K.

المصدر: Research outputs 2022 to 2026

مصطلحات موضوعية: driving standards, Inherited retinal disease, retinal dystrophy, retinal imaging, retinitis pigmentosa, visual field testing, Diseases, Eye Diseases, Medicine and Health Sciences

وصف الملف: application/pdf

العلاقة: https://ro.ecu.edu.au/ecuworks2022-2026/2276Test; https://ro.ecu.edu.au/context/ecuworks2022-2026/article/3276/viewcontent/DriveSafe_20DriveAware_20A_20systematic_20review.pdfTest

الإتاحة: https://doi.org/10.1080/13816810.2023.2196338Test
https://ro.ecu.edu.au/ecuworks2022-2026/2276Test
https://ro.ecu.edu.au/context/ecuworks2022-2026/article/3276/viewcontent/DriveSafe_20DriveAware_20A_20systematic_20review.pdfTest

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

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

الإتاحة: https://doi.org/10.3390/biom14030367Test
https://hdl.handle.net/11591/522988Test

المؤلفون: Gocuk, Sena A, Edwards, Thomas L, Jolly, Jasleen K, McGuinness, Myra B, MacLaren, Robert E, Chen, Fred K, Taylor, Laura J, McLaren, Terri L, Lamey, Tina M, Thompson, Jennifer A, Ayton, Lauren N

المصدر: Ophthalmol Retina ; ISSN:2468-6530

مصطلحات موضوعية: OCT, cross-sectional, genotype, microperimetry, phenotype

العلاقة: https://doi.org/10.1016/j.oret.2024.06.011Test; https://pubmed.ncbi.nlm.nih.gov/38936773Test

الإتاحة: https://doi.org/10.1016/j.oret.2024.06.011Test
https://pubmed.ncbi.nlm.nih.gov/38936773Test

المؤلفون: Moon, Sang Yoon, Zhang, Dan, Chen, Shang-Chih, Lamey, Tina M., Thompson, Jennifer A., McLaren, Terri L., Chen, Fred K., McLenachan, Samuel

المصدر: The CRISPR Journal ; volume 7, issue 2, page 100-110 ; ISSN 2573-1599 2573-1602

الإتاحة: https://doi.org/10.1089/crispr.2023.0065Test

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

الإتاحة: https://ro.ecu.edu.au/ecuworks2022-2026/1060Test
https://ro.ecu.edu.au/cgi/viewcontent.cgi?article=2060&context=ecuworks2022-2026Test

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