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1دورية أكاديمية
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 -
2دورية أكاديمية
المؤلفون: Grainok, Janya, Pitout, Ianthe L, Chen, Fred K, McLenachan, Samuel, Heath Jeffery, Rachael C, Mitrpant, Chalermchai, Fletcher, Sue
مصطلحات موضوعية: Codon, Nonsense, Eye Proteins - genetics, Eye Proteins - metabolism, Humans, Mutation, Oligonucleotides, Antisense - genetics, Antisense - therapeutic use, Open Reading Frames, Pedigree, Retinitis Pigmentosa, RNA Precursors - genetics
وصف الملف: pdf
العلاقة: ispartof: International journal of molecular sciences issue 6 vol 25; WOS:001193446500001; 991005652870007891; https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/A-Precision-Therapy-Approach-for-Retinitis/991005652870007891Test; https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12160737560007891/13160737550007891Test; alma:61MUN_INST/bibs/991005652870007891
الإتاحة: https://doi.org/10.3390/ijms25063391Test
https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/A-Precision-Therapy-Approach-for-Retinitis/991005652870007891Test
https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12160737560007891/13160737550007891Test -
3دورية 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 -
4دورية أكاديمية
المؤلفون: Heath Jeffery, Rachael C., Chen, Fred K.
المصدر: Survey of Ophthalmology ; volume 69, issue 1, page 1-23 ; ISSN 0039-6257
مصطلحات موضوعية: Ophthalmology
الإتاحة: https://doi.org/10.1016/j.survophthal.2023.07.007Test
https://api.elsevier.com/content/article/PII:S0039625723001030?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0039625723001030?httpAccept=text/plainTest -
5دورية أكاديمية
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 -
6دورية أكاديمية
المؤلفون: Aggio-Bruce, Riemke, Schumann, Ulrike, Cioanca, Adrian V., Chen, Fred K., McLenachan, Samuel, Heath Jeffery, Rachael C., Das, Shannon, Natoli, Riccardo
المصدر: Frontiers in Molecular Neuroscience ; volume 16 ; ISSN 1662-5099
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Molecular Biology
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7دورية 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 -
8دورية أكاديمية
المؤلفون: Kalantary, Amy, Halbert, Anne, Franchina, Maria, Heath Jeffery, Rachael C., O’Day, Rod, Chen, Fred K.
المصدر: JAMA Ophthalmology ; ISSN 2168-6165
الإتاحة: https://doi.org/10.1001/jamaophthalmol.2024.0854Test
https://jamanetwork.com/journals/jamaophthalmology/articlepdf/2817343/jamaophthalmology_kalantary_2024_lo_240004_1712158693.60532.pdfTest -
9دورية أكاديمية
المؤلفون: Kuht, Helen J., Maconachie, Gail D.E., Han, Jinu, Kessel, Line, van Genderen, Maria M., McLean, Rebecca J., Hisaund, Michael, Tu, Zhanhan, Hertle, Richard W., Gronskov, Karen, Bai, Dayong, Wei, Aihua, Li, Wei, Jiao, Yonghong, Smirnov, Vasily, Choi, Jae Hwan, Tobin, Martin D., Sheth, Viral, Purohit, Ravi, Dawar, Basu, Girach, Ayesha, Strul, Sasha, May, Laura, Chen, Fred K., Heath Jeffery, Rachael C., Aamir, Abdullah, Sano, Ronaldo, Jin, Jing, Brooks, Brian P., Kohl, Susanne, Arveiler, Benoit, Montoliu, Lluis, Engle, Elizabeth C., Proudlock, Frank A., Nishad, Garima, Pani, Prateek, Varma, Girish, Gottlob, Irene, Thomas, Mervyn G.
المساهمون: MS Oogheelkunde, Child Health
مصطلحات موضوعية: AHR, Albinism, Aniridia, FHONDA, Foveal hypoplasia, FRMD7, Genetics, Genotype-phenotype correlation, GPR143, Hermansky–Pudlak syndrome, OCT, PAX6, Retinal development, SLC38A8, Ophthalmology, Journal Article
وصف الملف: application/pdf
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10دورية أكاديمية
المؤلفون: KUHT, Helen J, MACONACHIE, Gail D E, HAN, Jinu, KESSEL, Line, VAN GENDEREN, Maria M, MCLEAN, Rebecca J, HISAUND, Michael, TU, Zhanhan, HERTLE, Richard W, GRONSKOV, Karen, BAI, Dayong, WEI, Aihua, LI, Wei, JIAO, Yonghong, SMIRNOV, Vasily, CHOI, Jae-Hwan, TOBIN, Martin D, SHETH, Viral, PUROHIT, Ravi, DAWAR, Basu, GIRACH, Ayesha, STRUL, Sasha, MAY, Laura, CHEN, Fred K, HEATH JEFFERY, Rachael C, AAMIR, Abdullah, SANO, Ronaldo, JIN, Jing, BROOKS, Brian P, KOHL, Susanne, ARVEILER, Benoit, MONTOLIU, Lluis, ENGLE, Elizabeth C, PROUDLOCK, Frank A, NISHAD, Garima, PANI, Prateek, VARMA, Girish, GOTTLOB, Irene, THOMAS, Mervyn G
مصطلحات موضوعية: Foveal hypoplasia, Optical coherence tomography, Genetics, Retinal development, Genotype-phenotype correlation