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41دورية أكاديمية
المؤلفون: Knight, L.S.W., Ruddle, J.B., Taranath, D.A., Goldberg, I., Smith, J.E.H., Gole, G., Chiang, M.Y., Willett, F., D’Mellow, G., Breen, J., Qassim, A., Mullany, S., Elder, J.E., Vincent, A.L., Staffieri, S.E., Kearns, L.S., Mackey, D.A., Luu, S., Siggs, O.M., Souzeau, E.
مصطلحات موضوعية: Childhood glaucoma, early onset glaucoma, genetic testing, glaucoma, glaucoma genetics
العلاقة: http://purl.org/au-research/grants/nhmrc/1116360Test; Ophthalmology, 2021; 128(11):1549-1560; https://hdl.handle.net/2440/132938Test; Breen, J. [0000-0001-6184-0925]
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42دورية أكاديمية
المؤلفون: Sue, C.M., Balasubramaniam, S., Bratkovic, D., Bonifant, C., Christodoulou, J., Coman, D., Crawley, K., Edema‐Hildebrand, F., Ellaway, C., Ghaoui, R., Kava, M., Kearns, L.S., Lee, J., Liang, C., Mackey, D.A., Murray, S., Needham, M., Rius, R., Russell, J., Smith, N.J.C., Thyagarajan, D., Wools, C.
المصدر: Sue, C.M., Balasubramaniam, S., Bratkovic, D., Bonifant, C., Christodoulou, J., Coman, D., Crawley, K., Edema‐Hildebrand, F., Ellaway, C., Ghaoui, R., Kava, M., Kearns, L.S., Lee, J., Liang, C., Mackey, D.A., Murray, S., Needham, M. , Rius, R., Russell, J., Smith, N.J.C., Thyagarajan, D. and Wools, C. (2021) Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations. Internal Medicine Journal, 52 (1). pp. 110-120.
العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/63082Test/; full_text_status:public
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المؤلفون: Lingham, G., Lee, S.S-Y, Charng, J., Clarke, A., Chen, F.K., Yazar, S., Mackey, D.A.
المصدر: Lingham, G., Lee, S.S-Y, Charng, J., Clarke, A., Chen, F.K. , Yazar, S. and Mackey, D.A. (2021) Distribution and classification of peripapillary retinal nerve fiber layer thickness in healthy young adults. Translational Vision Science & Technology, 10 (9). Art. 3.
العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/62079Test/; full_text_status:public
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المؤلفون: Springelkamp, H. (Henriët), Höhn, R. (René), Mishra, A. (Aniket), Hysi, P.G. (Pirro), Khor, C.C., Loomis, S.J. (Stephanie J.), Bailey, J.N.C. (Jessica N. Cooke), Gibson, J. (Jane), Thorleifsson, G. (Gudmar), Janssen, S.F. (Sarah), Luo, X. (Xiaoyan), Ramdas, W.D. (Wishal), Vithana, E.N. (Eranga), Nongpiur, M.E. (Monisha E.), Montgomery, G.W. (Grant), Xu, L. (Liang), Mountain, J.E. (Jenny E.), Gharahkhani, P. (Puya), Lu, Y. (Yi), Amin, N. (Najaf), Karssen, L.C. (Lennart), Sim, K.S., Leeuwen, E.M. (Elisa) van, Iglesias González, A.I. (Adriana), Verhoeven, V.J.M. (Virginie), Hauser, M.A. (Michael), Loon, S.-C. (Seng-Chee), Despriet, D.D.G. (Dominique), Nag, A. (Abhishek), Venturini, C. (Cristina), Sanfilippo, P.G. (Paul G.), Schillert, A. (Arne), Kang, J.H. (Jae), Landers, J. (John), Jonasson, F. (Fridbert), Cree, A.J. (Angela), Koolwijk, L.M.E. (Leonieke) van, Rivadeneira Ramirez, F. (Fernando), Souzeau, E. (Emmanuelle), Jonsson, V. (Vesteinn), Menon, G. (Geeta), Mitchell, P. (Paul), Wang, J.J. (Jie Jin), Rochtchina, E. (Elena), Attia, J. (John), Scott, R. (Rodney), Holliday, E.G. (Elizabeth), Baird, P.N. (Paul), Xie, J. (Jing), Inouye, M. (Michael), Viswanathan, A.C. (Ananth), Sim, X. (Xueling), Weinreb, R.N. (Robert N.), Jong, P.T.V.M. (Paulus) de, Oostra, B.A. (Ben), Uitterlinden, A.G. (André), Hofman, A. (Albert), Ennis, S. (Sarah), Thorsteinsdottir, U. (Unnur), Burdon, K.P. (Kathryn), Spector, T.D. (Timothy), Mirshahi, A. (Alireza), Saw, S-M. (Seang-Mei), Vingerling, J.R. (Hans), Teo, Y.Y. (Yik Ying), Wolfs, R.C.W. (Roger), Lemij, H.G. (Hans), Tai, E.S. (Shyong), Jansonius, N.M. (Nomdo), Jonas, J.B. (Jost B.), Cheng, C-Y. (Ching-Yu), Aung, T. (Tin), Klaver, C.C.W. (Caroline), Craig, J.E. (Jamie), MacGregor, S. (Stuart), Mackey, D.A. (David), Lotery, A.J. (Andrew), Zwart, J-A. (John-Anker), Bergen, A.A.B. (Arthur), Young, T.L. (Terri), Wiggs, J.L. (Janey), Pfeiffer, A.F.H. (Andreas), Wong, T.Y. (Tien Yin), Pasquale, L.R. (Louis), Hewit, A.W. (Alex), Duijn, C.M. (Cornelia) van, Hammond, C.J. (Christopher)
المصدر: Nature Communications vol. 5
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/81764Test; urn:hdl:1765/81764
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المؤلفون: Hysi, P.G. (Pirro), Cheng, C-Y. (Ching-Yu), Springelkamp, H. (Henriët), MacGregor, S. (Stuart), Bailey, J.N.C. (Jessica N. Cooke), Wojciechowski, R. (Robert), Vitart, V. (Veronique), Nag, A. (Abhishek), Hewit, A.W. (Alex), Höhn, R. (René), Venturini, C. (Cristina), Mirshahi, A. (Alireza), Ramdas, W.D. (Wishal), Thorleifsson, G. (Gudmar), Vithana, E.N. (Eranga), Khor, C.C., Stefansson, A.B. (Arni B.), Liao, J. (Jie), Haines, J.L. (Jonathan), Amin, N. (Najaf), Wang, Y. (Ying), Wild, P.S. (Philipp S.), Ozel, A.B. (Ayse), Li, J., Fleck, B.W. (Brian W.), Zeller, T. (Tanja), Staffieri, S.E. (Sandra E.), Teo, Y.Y. (Yik Ying), Cuellar-Partida, G. (Gabriel), Luo, X. (Xiaoyan), Allingham, R.R. (R Rand), Richards, J.E. (Julia), Senft, A. (Andrea), Karssen, L.C. (Lennart), Zheng, Y. (Yingfeng), Bellenguez, C. (Céline), Xu, L. (Liang), Iglesias González, A.I. (Adriana), Wilson, J.F. (James F), Kang, J.H. (Jae), Leeuwen, E.M. (Elisa) van, Jonsson, V. (Vesteinn), Thorsteinsdottir, U. (Unnur), Despriet, D.D.G. (Dominique), Ennis, S. (Sarah), Moroi, S.E. (Sayoko), Martin, N.G. (Nicholas), Jansonius, N.M. (Nomdo), Yazar, S. (Seyhan), Tai, E.S. (Shyong), Amouyel, P. (Philippe), Kirwan, J. (James), Koolwijk, L.M.E. (Leonieke) van, Hauser, M.A. (Michael), Jonasson, F. (Fridbert), Leo, P.J. (Paul), Loomis, S.J. (Stephanie J.), Fogarty, R. (Rhys), Rivadeneira Ramirez, F. (Fernando), Kearns, L.S. (Lisa S.), Lackner, K.J. (Karl), Jong, P.T.V.M. (Paulus) de, Simpson, C.L. (Claire), Pennell, C.E. (Craig), Oostra, B.A. (Ben), Uitterlinden, A.G. (André), Saw, S-M. (Seang-Mei), Lotery, A.J. (Andrew), Bailey-Wilson, J.E. (Joan E.), Hofman, A. (Albert), Vingerling, J.R. (Hans), Maubaret, C. (Cécilia), Pfeiffer, A.F.H. (Andreas), Wolfs, R.C.W. (Roger), Lemij, H.G. (Hans), Young, T.L. (Terri), Pasquale, L.R. (Louis), Delcourt, C. (Cécile), Spector, T.D. (Timothy), Klaver, C.C.W. (Caroline), Small, K.S. (Kerrin), Burdon, K.P. (Kathryn), Zwart, J-A. (John-Anker), Wong, T.Y. (Tien Yin), Viswanathan, A.C. (Ananth), Mackey, D.A. (David), Craig, J.E. (Jamie), Wiggs, J.L. (Janey), Duijn, C.M. (Cornelia) van, Hammond, C.J. (Christopher), Aung, T. (Tin)
المصدر: Nature Genetics vol. 46 no. 10, pp. 1126-1130
العلاقة: http://repub.eur.nl/pub/90676Test; urn:hdl:1765/90676
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المؤلفون: Strunz T., Lauwen S., Kiel C., Fritsche L.G., Igl W., Bailey J.N.C., Grassmann F., Sengupta S., Bragg-Gresham J.L., Burdon K.P., Hebbring S.J., Wen C., Gorski M., Kim I.K., Cho D., Zack D., Souied E., Scholl H.P.N., Bala E., Lee K.E., Hunter D.J., Sardell R.J., Mitchell P., Merriam J.E., Cipriani V., Hoffman J.D., Schick T., Lechanteur Y.T.E., Guymer R.H., Johnson M.P., Jiang Y., Stanton C.M., Buitendijk G.H.S., Zhan X., Kwong A.M., Boleda A., Brooks M., Gieser L., Ratnapriya R., Branham K.E., Foerster J.R., Heckenlively J.R., Othman M.I., Vote B.J., Liang H.H., Souzeau E., McAllister I.L., Isaacs T., Hall J., Lake S., Mackey D.A., Constable I.J., Craig J.E., Kitchner T.E., Yang Z., Su Z., Luo H., Chen D., Ouyang H., Flagg K., Lin D., Mao G., Ferreyra H., Stark K., Strachwitz C.N., Wolf A., Brandl C., Rudolph G., Olden M., Morrison M.A., Morgan D.J., Schu M., Ahn J., Silvestri G., Tsironi E.E., Park K.H., Farrer L.A., Orlin A., Brucker A., Li M., Curcio C., Mohand-Saïd S., Sahel J.-A., Audo I., Benchaboune M., Cree A.J., Rennie C.A., Goverdhan S.V., Grunin M., Hagbi-Levi S., Campochiaro P., Katsanis N., Holz F.G., Blond F., Blanché H., Deleuze J.-F., Igo R.P., Jr., Truitt B., Peachey N.S., Meuer S.M., Myers C.E., Moore E.L., Klein R., Hauser M.A., Postel E.A., Courtenay M.D., Schwartz S.G., Kovach J.L., Scott W.K., Liew G., Tfan A.G., Gopinath B., Merriam J.C., Smith R.T., Khan J.C., Shahid H., Moore A.T., McGrath J.A., Laux R., Brantley M.A., Agarwal A., Ersoy L., Caramoy A., Langmann T., Saksens N.T.M., Jong E.K., Hoyng C.B., Cain M.S., Richardson A.J., Martin T.M., Blangero J., Weeks D.E., Dhillon B., Duijn C.M., Doheny K.F., Romm J., Klaver C.C.W., Hayward C., Gorin M.B., Klein M.L., Baird P.N., Hollander A.I., Fauser S., Yates J.R.W., Allikmets R., Wang J.J., Schaumberg D.A., Klein B.E.K., Hagstrom S.A., Chowers I., Lotery A.J., Léveillard T., Zhang K., Brilliant M.H., Hewitt A.W., Swaroop A., Chew E.Y., Pericak-Vance M.A., DeAngelis M., Stambolian D., Haines J.L., Iyengar S.K., Weber B.H.F., Abecasis G.R., Heid I.M., Hollander A., International AMD Genomics Consortium (IAMDGC)
المصدر: Scientific Reports ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85078851693&doi=10.1038%2fs41598-020-58510-9&partnerID=40&md5=1f299c56be2191781072cefdb9d2bafbTest
مصطلحات موضوعية: transcriptome, gene, gene expression profiling, gene regulatory network, genetic predisposition, genetics, genome-wide association study, human, macular degeneration, Gene Regulatory Networks, Genes, Genetic Predisposition to Disease, Humans, Nature Research
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47دورية أكاديمية
المؤلفون: Craig, J.E., Han, X., Qassim, A., Hassall, M., Bailey, J.N., Kinzy, T.G., Khawaja, A.P., An, J., Marshall, H., Gharahkhani, P., Igo, R.P., Jr., Graham, S.L., Healey, P.R., Ong, J.S., Zhou, T., Siggs, O., Law, M.H., Souzeau, E., Ridge, B., Hysi, P.G., Burdon, K.P., Mills, R.A., Landers, J., Ruddle, J.B., Agar, A., Galanopoulos, A., White, A.J.R., Willoughby, C.E., Andrew, N.H., Best, S., Vincent, A.L., Goldberg, I., Radford-Smith, G., Martin, N.G., Montgomery, G.W., Vitart, V., Hoehn, R., Wojciechowski, R., Jonas, J.B., Aung, T., Pasquale, L.R., Cree, A.J., Sivaprasad, S., Vallabh, N.A., Viswanathan, A.C., Pasutto, F., Haines, J.L., Klaver, C.C.W., Duijn, C.M. van, Casson, R.J., Foster, P.J., Khaw, P.T., Hammond, C.J., Mackey, D.A., Mitchell, P., Lotery, A.J., Wiggs, J.L., Hewitt, A.W., MacGregor, S.
المصدر: Nature Genetics, 52, 2, pp. 160-166
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المؤلفون: Zheng, Y., Huang, T., Wang, T.G., Mei, Z.D., Sun, Z.H., Zhang, T., Ellervik, C., Chai, J.F., Sim, X.L., Dam, R.M. van, Tai, E.S., Koh, W.P., Dorajoo, R., Saw, S.M., Sabanayagam, C., Wong, T.Y., Gupta, P., Rossing, P., Ahluwalia, T.S., Vinding, R.K., Bisgaard, H., Bonnelykke, K., Wang, Y.J., Graff, M., Voortman, T., Rooij, F.J.A. van, Hofman, A., Heemst, D. van, Noordam, R., Estampador, A.C., Varga, T.V., Enzenbach, C., Scholz, M., Thiery, J., Burkhardt, R., Orho-Melander, M., Schulz, C.A., Ericson, U., Sonestedt, E., Kubo, M., Akiyama, M., Zhou, A., Kilpelainen, T.O., Hansen, T., Kleber, M.E., Delgado, G., McCarthy, M., Lemaitre, R.N., Felix, J.F., Jaddoe, V.W.V., Wu, Y., Mohlke, K.L., Lehtimaki, T., Wang, C.A., Pennell, C.E., Schunkert, H., Kessler, T., Zeng, L.Y., Willenborg, C., Peters, A., Lieb, W., Grote, V., Rzehak, P., Koletzko, B., Erdmann, J., Munz, M., Wu, T.C., He, M., Yu, C.Z., Lecoeur, C., Froguel, P., Corella, D., Moreno, L.A., Lai, C.Q., Pitkanen, N., Boreham, C.A., Ridker, P.M., Rosendaal, F.R., Mutsert, R. de, Power, C., Paternoster, L., Sorensen, T.I.A., Tjonneland, A., Overvad, K., Djousse, L., Rivadeneira, F., Lee, N.R., Raitakari, O.T., Kahonen, M., Viikari, J., Langhendries, J.P., Escribano, J., Verduci, E., Dedoussis, G., Konig, I., Balkau, B., Coltell, O., Dallongeville, J., Meirhaeghe, A., Amouyel, P., Gottrand, F., Pahkala, K., Niinikoski, H., Hypponen, E., Marz, W., Mackey, D.A., Gruszfeld, D., Tucker, K.L., Fumeron, F., Estruch, R., Ordovas, J.M., Arnett, D.K., Mook-Kanamori, D.O., Mozaffarian, D., Psaty, B.M., North, K.E., Chasman, D.I., Qi, L.
المصدر: European Journal of Epidemiology
مصطلحات موضوعية: Birthweight, Hypertension, Blood pressure, Mendelian randomization, Causal association
وصف الملف: application/pdf
العلاقة: https://link.springer.com/article/10.1007/s10654-020-00638-zTest; lumc-id: 111849299; https://hdl.handle.net/1887/3184688Test
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49دورية أكاديمية
المؤلفون: Roshandel, D., Thompson, J.A., Charng, J., Zhang, D., Chelva, E., Arunachalam, S., Attia, M.S., Lamey, T.M., McLaren, T.L., De Roach, J.N., Mackey, D.A., Wilton, S.D., Fletcher, S., McLenachan, S., Chen, F.K.
المصدر: Roshandel, D., Thompson, J.A., Charng, J., Zhang, D., Chelva, E., Arunachalam, S., Attia, M.S., Lamey, T.M., McLaren, T.L., De Roach, J.N., Mackey, D.A., Wilton, S.D. , Fletcher, S. , McLenachan, S. and Chen, F.K. (2020) Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy. Ophthalmic Genetics . pp. 1-14.
مصطلحات موضوعية: envir
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50دورية أكاديمية
المؤلفون: Dyer, K.I.C., Sanfilippo, P.G., White, S.W., Guggenheim, J.A., Hammond, C.J., Newnham, J.P., Mackey, D.A., Yazar, S.
المصدر: Dyer, K.I.C., Sanfilippo, P.G., White, S.W., Guggenheim, J.A., Hammond, C.J., Newnham, J.P. , Mackey, D.A. and Yazar, S. (2020) Associations between fetal growth trajectories and the development of myopia by 20 Years of Age. Investigative Opthalmology & Visual Science, 61 (14). p. 26.
العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/59581Test/; full_text_status:public
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