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1دورية أكاديمية
المؤلفون: Okazaki, Y, Furuno, M, Kasukawa, T, Adachi, J, Bono, H, Kondo, S, Nikaido, I, Osato, N, Saito, R, Suzuki, H, Yamanaka, I, Kiyosawa, H, Yagi, K, Tomaru, Y, Hasegawa, Y, Nogami, A, Schonbach, C, Gojobori, T, Baldarelli, R, Hill, DP, Bult, C, Hume, DA, Quackenbush, J, Schriml, LM, Kanapin, A, Matsuda, H, Batalov, S, Beisel, KW, Blake, JA, Bradt, D, Brusic, V, Chothia, C, Corbani, LE, Cousins, S, Dalla, E, Dragani, TA, Fletcher, CF, Forrest, A, Frazer, KS, Gaasterland, T, Gariboldi, M, Gissi, C, Godzik, A, Gough, J, Grimmond, S, Gustincich, S, Hirokawa, N, Jackson, IJ, Jarvis, ED, Kanai, A, Kawaji, H, Kawasawa, Y, Kedzierski, RM, King, BL, Konagaya, A, Kurochkin, IV, Lee, Y, Lenhard, B, Lyons, PA, Maglott, DR, Maltais, L, Marchionni, L, McKenzie, L, Miki, H, Nagashima, T, Numata, K, Okido, T, Pavan, WJ, Pertea, G, Pesole, G, Petrovsky, N, Pillai, R, Pontius, JU, Qi, D, Ramachandran, S, Ravasi, T, Reed, JC, Reed, DJ, Reid, J, Ring, BZ, Ringwald, M, Sandelin, A, Schneider, C, Semple, CAM, Setou, M, Shimada, K, Sultana, R, Takenaka, Y, Taylor, MS, Teasdale, RD, Tomita, M, Verardo, R, Wagner, L, Wahlestedt, C, Wang, Y, Watanabe, Y, Wells, C, Wilming, LG, Wynshaw-Boris, A, Yanagisawa, M, Yang, I, Yang, L, Yuan, Z, Zavolan, M, Zhu, Y, Zimmer, A, Carninci, P, Hayatsu, N, Hirozane-Kishikawa, T, Konno, H, Nakamura, M, Sakazume, N, Sato, K, Shiraki, T, Waki, K, Kawai, J, Aizawa, K, Arakawa, T, Fukuda, S, Hara, A, Hashizume, W, Imotani, K, Ishii, Y, Itoh, M, Kagawa, I, Miyazaki, A, Sakai, K, Sasaki, D, Shibata, K, Shinagawa, A, Yasunishi, A, Yoshino, M, Waterston, R, Lander, ES, Rogers, J, Birney, E, Hayashizaki, Y
المصدر: Nature. 420(6915):563-573
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Morgan, MD, Pairo-Castineira, E, Rawlik, K, Canela-Xandri, O, Rees, J, Sims, D, Tenesa, A, Jackson, IJ
العلاقة: https://ora.ox.ac.uk/objects/uuid:178be616-c608-4df9-bea6-a94c7a08347bTest; https://doi.org/10.1038/s41467-018-07691-zTest
الإتاحة: https://doi.org/10.1038/s41467-018-07691-zTest
https://ora.ox.ac.uk/objects/uuid:178be616-c608-4df9-bea6-a94c7a08347bTest -
3دورية أكاديمية
المؤلفون: Cross, SH, Mckie, L, Keighren, M, West, K, Thaung, C, Davey, T, Soares, DC, Sanchez-Pulido, L, Jackson, IJ
المصدر: Investigative Ophthalmology and Visual Science (IOVS) , 60 (8) pp. 2875-2887. (2019)
مصطلحات موضوعية: nanophthalmos, mouse models, retina, genetic diseases
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10078095/1/Crossetal_OA_i1552-5783-60-8-2875%20%282%29.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10078095/7/Crossetal_Suppl_Comb.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10078095Test/
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4دورية أكاديمية
المؤلفون: Findlay, AS, Carter, RN, Starbuck, B, McKie, L, Nováková, K, Budd, PS, Keighren, MA, Marsh, JA, Cross, SH, Simon, MM, Potter, PK, Morton, NM, Jackson, IJ
المصدر: Disease Models & Mechanisms , 11 , Article dmm036426. (2018)
مصطلحات موضوعية: Krebs cycle, Mouse model, Retinitis pigmentosa
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10065465/1/dmm036426.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10065465Test/
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5دورية أكاديمية
المؤلفون: Hall, EA, Nahorski, MS, Murray, LM, Shaheen, R, Perkins, E, Dissanayake, KN, Kristaryanto, Y, Jones, RA, Vogt, J, Rivagorda, M, Handley, MT, Mali, GR, Quidwai, T, Soares, DC, Keighren, MA, McKie, L, Mort, RL, Gammoh, N, Garcia-Munoz, A, Davey, T, Vermeren, M, Walsh, D, Budd, P, Aligianis, IA, Faqeih, E, Quigley, AJ, Jackson, IJ, Kulathu, Y, Jackson, M, Ribchester, RR, von Kriegsheim, A, Alkuraya, FS, Woods, CG, Maher, ER, Mill, P
مصطلحات موضوعية: Phospholipase A2-activating protein, Ufd3, autophagy, cerebellum, endolysosomal trafficking, microcephaly, seizures, synapse, synaptic vesicle recycling, ubiquitin
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.17863/CAM.9712Test
https://www.repository.cam.ac.uk/handle/1810/264425Test -
6دورية أكاديمية
المؤلفون: Potter, PK, Bowl, MR, Jeyarajan, P, Wisby, L, Blease, A, Goldsworthy, ME, Simon, MM, Greenaway, S, Michel, V, Barnard, A, Aguilar, C, Agnew, T, Banks, G, Blake, A, Chessum, L, Dorning, J, Falcone, S, Goosey, L, Harris, S, Haynes, A, Heise, I, Hillier, R, Hough, T, Hoslin, A, Hutchison, M, King, R, Kumar, S, Lad, HV, Law, G, MacLaren, RE, Morse, S, Nicol, T, Parker, A, Pickford, K, Sethi, S, Starbuck, B, Stelma, F, Cheeseman, M, Cross, SH, Foster, RG, Jackson, IJ, Peirson, SN, Thakker, RV, Vincent, T, Scudamore, C, Wells, S, El-Amraoui, A, Petit, C, Acevedo-Arozena, A, Nolan, PM, Cox, R, Mallon, AM, Brown, SD
العلاقة: https://ora.ox.ac.uk/objects/uuid:ad21ac38-4a8a-4377-8be5-0f6880811264Test; https://doi.org/10.1038/ncomms12444Test
الإتاحة: https://doi.org/10.1038/ncomms12444Test
https://ora.ox.ac.uk/objects/uuid:ad21ac38-4a8a-4377-8be5-0f6880811264Test -
7دورية أكاديمية
المؤلفون: Potter, PK, Bowl, MR, Jeyarajan, P, Wisby, L, Blease, A, Goldsworthy, ME, Simon, MM, Greenaway, S, Michel, V, Barnard, A, Aguilar, C, Agnew, T, Banks, G, Blake, A, Chessum, L, Dorning, J, Falcone, S, Goosey, L, Harris, S, Haynes, A, Heise, I, Hillier, R, Hough, T, Hoslin, A, Hutchison, M, King, R, Kumar, S, Lad, HV, Law, G, MacLaren, RE, Morse, S, Nicol, T, Parker, A, Pickford, K, Sethi, S, Starbuck, B, Stelma, F, Cheeseman, M, Cross, SH, Foster, RG, Jackson, IJ, Peirson, SN, Thakker, RV, Vincent, T, Scudamore, C, Wells, S, El-Amraoui, A, Petit, C, Acevedo-Arozena, A, Nolan, PM, Cox, R, Mallon, A-M, Brown, SDM
المصدر: Nature Communications , 7 , Article 12444. (2016)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10112369/1/Novel%20gene%20function%20revealed%20by%20mouse%20mutagenesis%20screens%20for%20models%20of%20age-related%20disease.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10112369Test/
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8دورية أكاديمية
المؤلفون: Chen, J, Ingham, N, Kelly, J, Jadeja, S, Goulding, D, Pass, J, Mahajan, VB, Tsang, SH, Nijnik, A, Jackson, IJ, White, JK, Forge, A, Jagger, D, Steel, KP
المصدر: PLoS Genet , 10 (10) , Article e1004688. (2014)
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1453954/1/journal.pgen.1004688.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1453954Test/
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9دورية أكاديمية
المؤلفون: Diggle, CP, Moore, DJ, Mali, G, zur Lage, P, Ait-Lounis, A, Schmidts, M, Shoemark, A, Munoz, AG, Halachev, MR, Gautier, P, Yeyati, PL, Bonthron, DT, Carr, IM, Hayward, B, Markham, AF, Hope, JE, von Kriegsheim, A, Mitchison, HM, Jackson, IJ, Durand, B, Reith, W, Sheridan, E, Jarman, AP, Mill, P
العلاقة: PLOS Genetics; http://hdl.handle.net/10044/1/23593Test; https://dx.doi.org/10.1371/journal.pgen.1004577Test
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10دورية أكاديمية
المؤلفون: Handley, TW, Morris-Rosendahl, DJ, Brown, S, Macdonald, F, Hardy, C, Bem, D, Carpanini, SM, Borck, G, Martorell, L, Izzi, C, Faravelli, F, Accorsi, P, Pinelli, L, Basel-Vanagaite, L, Peretz, G, Abdel-Salam, GMH, Zaki, MS, Jansen, A, Mowat, DR, Glass, IA, Stewart, H, Mancini, GMS, Lederer, D, Roscioli, T, Giuliano, F, Plomp, AS, Rolfs, A, Graham, JM, Seemanova, E, Poo, P, Garcia-Cazorla, A, Edery, P, Jackson, IJ, Aligianis, IA, Maher, ER
المصدر: urn:ISSN:1059-7794 ; urn:ISSN:1098-1004 ; Human Mutation, 34, 5, 686-696
مصطلحات موضوعية: Neurodegenerative, Pediatric, Neurosciences, Genetics, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Congenital Structural Anomalies, Clinical Research, Genetic Testing, 2.1 Biological and endogenous factors, 2 Aetiology, Amino Acid Sequence, Animals, Cataract, Child, Preschool, Genotype, Humans, Hypogonadism, Infant, Intellectual Disability, Magnetic Resonance Imaging, Male, Molecular Sequence Data, Mutation, Missense, Phenotype, Sequence Homology, Amino Acid, rab GTP-Binding Proteins