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1Academic Journal
المؤلفون: Hota, SK, Johnson, JR, Verschueren, E, Thomas, R, Blotnick, AM, Zhu, Y, Sun, X, Pennacchio, LA, Krogan, NJ, Bruneau, BG
Relation: https://ora.ox.ac.uk/objects/uuid:17f76f7c-6e00-4d02-a7aa-6ffc873d3d9b; https://doi.org/10.1242/dev.174086
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2Academic Journal
المؤلفون: Ishorst, N, Kvon, EZ, Zhu, Y, Tran, S, Plajzer-Frick, I, Pickle, CS, Hoelzel, S, Harrington, A, Godoy, J, Akiyama, JA, Selleri, L, Welsh, IC, Noethen, MM, Ludwig, KU, Mangold, E, Dickel, DE, Pennacchio, LA, Visel, A
المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS. 28(SUPPL 1)
مصطلحات موضوعية: Genetics, Clinical Sciences, Genetics & Heredity, Clinical sciences
URL الوصول: https://escholarship.org/uc/item/5676836b
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3Academic Journal
المؤلفون: Rajderkar, S, Barozzi, I, Zhu, Y, Hu, R, Zhang, Y, Li, B, Alcaina Caro, A, Fukuda-Yuzawa, Y, Kelman, G, Akeza, A, Blow, MJ, Pham, Q, Harrington, AN, Godoy, J, Meky, EM, Von Maydell, K, Hunter, RD, Akiyama, JA, Novak, CS, Plajzer-Frick, I, Afzal, V, Tran, S, Lopez-Rios, J, Talkowski, ME, Lloyd, KCK, Ren, B, Dickel, DE, Visel, A, Pennacchio, LA
جغرافية الموضوع: England
Relation: Communications Biology; http://hdl.handle.net/10044/1/103872
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4Academic Journal
المؤلفون: King, AJ, Songdej, D, Downes, DJ, Beagrie, RA, Liu, S, Buckley, M, Hua, P, Suciu, MC, Marieke Oudelaar, A, Hanssen, LLP, Jeziorska, D, Roberts, N, Carpenter, SJ, Francis, H, Telenius, J, Olijnik, A-A, Sharpe, JA, Sloane-Stanley, J, Eglinton, J, Kassouf, MT, Orkin, SH, Pennacchio, LA, Davies, JOJ, Hughes, JR, Higgs, DR, Babbs, C
Relation: https://ora.ox.ac.uk/objects/uuid:b6d5fd3f-ebbb-4264-bd57-7dcc1a815018; https://doi.org/10.1038/s41467-021-24402-3
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5Academic Journal
المؤلفون: Spurrell, CH, Barozzi, I, Kosicki, M, Mannion, BJ, Blow, MJ, Fukuda-Yuzawa, Y, Slaven, N, Afzal, SY, Akiyama, JA, Afzal, V, Tran, S, Plajzer-Frick, I, Novak, CS, Kato, M, Lee, EA, Garvin, TH, Pham, QT, Kronshage, AN, Lisgo, S, Bristow, J, Cappola, TP, Morley, MP, Margulies, KB, Pennacchio, LA, Dickel, DE, Visel, A
المصدر: 16 ; 1
Relation: Cell Reports; http://hdl.handle.net/10044/1/101791
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6Academic Journal
المؤلفون: Padhi, EM, Hayeck, TJ, Cheng, Z, Chatterjee, S, Mannion, BJ, Byrska-Bishop, M, Willems, M, Pinson, L, Redon, S, Benech, C, Uguen, K, Audebert-Bellanger, S, Le Marechal, C, Ferec, C, Efthymiou, S, Rahman, F, Maqbool, S, Maroofian, R, Houlden, H, Musunuri, R, Narzisi, G, Abhyankar, A, Hunter, RD, Akiyama, J, Fries, LE, Ng, JK, Mehinovic, E, Stong, N, Allen, AS, Dickel, DE, Bernier, RA, Gorkin, DU, Pennacchio, LA, Zody, MC, Turner, TN
المصدر: Human Genomics , 15 , Article 44. (2021)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Autism, Neurodevelopmental disorder, Enhancer, Gene regulatory network, EBF3, hs737, Genome, Variant, De novo, COPY-NUMBER VARIATION, DE-NOVO MUTATIONS, GENETIC RISK, DISCOVERY, COMMON, HERITABILITY, PATTERNS, BROWSER, NETWORK
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10132287/1/s40246-021-00342-3.pdf; https://discovery.ucl.ac.uk/id/eprint/10132287/
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7Academic Journal
المؤلفون: Haigh, JL, Adhikari, A, Copping, NA, Stradleigh, T, Wade, AA, Catta-Preta, R, Su-Feher, L, Zdilar, I, Morse, S, Fenton, TA, Nguyen, A, Quintero, D, Agezew, S, Sramek, M, Kreun, EJ, Carter, J, Gompers, A, Lambert, JT, Canales, CP, Pennacchio, LA, Visel, A, Dickel, DE, Silverman, JL, Nord, AS
وصف الملف: text
Relation: https://eprints.leedsbeckett.ac.uk/id/eprint/9821/1/DeletionOfANoncanonicalRegulatorySequenceCausesLossOfScn1AExpressionAndEpilepticPhenotypesInMicePV-HAIGH.pdf; Haigh, JL and Adhikari, A and Copping, NA and Stradleigh, T and Wade, AA and Catta-Preta, R and Su-Feher, L and Zdilar, I and Morse, S and Fenton, TA and Nguyen, A and Quintero, D and Agezew, S and Sramek, M and Kreun, EJ and Carter, J and Gompers, A and Lambert, JT and Canales, CP and Pennacchio, LA and Visel, A and Dickel, DE and Silverman, JL and Nord, AS (2021) Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice. Genome Medicine, 13 (1). pp. 1-22. ISSN 1756-994X DOI: https://doi.org/10.1186/s13073-021-00884-0
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8Academic Journal
المؤلفون: Moore, JE, Purcaro, MJ, Pratt, HE, Epstein, CB, Shoresh, N, Adrian, J, Kawli, T, Davis, CA, Dobin, A, Kaul, R, Halow, J, Van Nostrand, EL, Freese, P, Gorkin, DU, Shen, Y, He, Y, Mackiewicz, M, Pauli-Behn, F, Williams, BA, Mortazavi, A, Keller, CA, Zhang, X-O, Elhajjajy, SI, Huey, J, Dickel, DE, Snetkova, V, Wei, X, Wang, X, Rivera-Mulia, JC, Rozowsky, J, Zhang, J, Chhetri, SB, Victorsen, A, White, KP, Visel, A, Yeo, GW, Burge, CB, Lécuyer, E, Gilbert, DM, Dekker, J, Rinn, J, Mendenhall, EM, Ecker, JR, Kellis, M, Klein, RJ, Noble, WS, Kundaje, A, Guigó, R, Farnham, PJ, Cherry, JM, Myers, RM, Ren, B, Graveley, BR, Gerstein, MB, Pennacchio, LA, Snyder, MP, Bernstein, BE, Wold, B, Hardison, RC, Gingeras, TR, Stamatoyannopoulos, JA, Weng, Z
المصدر: 710 ; 699
مصطلحات موضوعية: General Science & Technology
Relation: Nature; http://hdl.handle.net/10044/1/81285
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9Academic Journal
المؤلفون: Oz-Levi, D, Olender, T, Bar-Joseph, I, Zhu, Y, Marek-Yagel, D, Barozzi, I, Osterwalder, M, Alkelai, A, Ruzzo, EK, Han, Y, Vos, ESM, Reznik-Wolf, H, Hartman, C, Shamir, R, Weiss, B, Shapiro, R, Pode-Shakked, B, Tatarskyy, P, Milgrom, R, Schvimer, M, Barshack, I, Imai, DM, Coleman-Derr, D, Dickel, DE, Nord, AS, Afzal, V, van Bueren, KL, Barnes, RM, Black, BL, Mayhew, CN, Kuhar, MF, Pitstick, A, Tekman, M, Stanescu, HC, Wells, JM, Kleta, R, de laat, W, Goldstein, DB, Pras, E, Visel, A, Lancet, D, Anikster, Y, Pennacchio, LA
المصدر: Nature , 571 pp. 107-111. (2019)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10080305/6/Kleta%20red%20IDS.complied.near.final%20%281%29.pdf; https://discovery.ucl.ac.uk/id/eprint/10080305/
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10Academic Journal
المؤلفون: Gorkin, DU, Barozzi, I, Zhao, Y, Zhang, Y, Huang, H, Lee, AY, Li, B, Chiou, J, Wildberg, A, Ding, B, Zhang, B, Wang, M, Strattan, JS, Davidson, JM, Qiu, Y, Afzal, V, Akiyama, JA, Plajzer-Frick, I, Novak, CS, Kato, M, Garvin, TH, Pham, QT, Harrington, AN, Mannion, BJ, Lee, EA, Fukuda-Yuzawa, Y, He, Y, Preissl, S, Chee, S, Han, JY, Williams, BA, Trout, D, Amrhein, H, Yang, H, Cherry, JM, Wang, W, Gaulton, K, Ecker, JR, Shen, Y, Dickel, DE, Visel, A, Pennacchio, LA, Ren, B
المصدر: 751 ; 744
مصطلحات موضوعية: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, GENOME-WIDE, TRANSCRIPTION FACTOR, ACCESSIBLE CHROMATIN, SUPER-ENHANCERS, CELL IDENTITY, DOMAINS, STATE, GENE, EXPRESSION, ENCODE, Animals, Chromatin, Chromatin Immunoprecipitation Sequencing, Datasets as Topic, Disease, Enhancer Elements, Genetic, Female, Fetal Development, Gene Expression Regulation, Developmental, Genetic Variation, Histones, Humans, Male, Mice, Inbred C57BL
Relation: Nature; http://hdl.handle.net/10044/1/81288
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11Academic Journal
المؤلفون: Dickel, DE, Ypsilanti, AR, Pla, R, Zhu, Y, Barozzi, I, Mannion, BJ, Khin, YS, Fukuda-Yuzawa, Y, Plajzer-Frick, I, Pickle, CS, Lee, EA, Harrington, AN, Pham, QT, Garvin, TH, Kato, M, Osterwalder, M, Akiyama, JA, Afzal, V, Rubenstein, JLR, Pennacchio, LA, Visel, A
المصدر: 499.e15 ; 491
مصطلحات موضوعية: Developmental Biology, 06 Biological Sciences, 11 Medical and Health Sciences
Relation: Cell; http://hdl.handle.net/10044/1/81254
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12Academic Journal
المؤلفون: Monti, R, Barozzi, I, Osterwalder, M, Lee, E, Kato, M, Garvin, TH, Plajzer-Frick, I, Pickle, CS, Akiyama, JA, Afzal, V, Beerenwinkel, N, Dickel, DE, Visel, A, Pennacchio, LA
المساهمون: Ioshikhes, I
مصطلحات موضوعية: Bioinformatics, 01 Mathematical Sciences, 06 Biological Sciences, 08 Information and Computing Sciences
Relation: PLoS Computational Biology; http://hdl.handle.net/10044/1/81251
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13Academic Journal
المؤلفون: van der Harst, P, van Setten, J, Verweij, N, Vogler, G, Franke, L, Maurano, MT, Wang, X, Leach, IM, Eijgelsheim, M, Sotoodehnia, N, Hayward, C, Sorice, R, Meirelles, O, Lyytikainen, L-P, Polasek, O, Tanaka, T, Arking, DE, Ulivi, S, Trompet, S, Mueller-Nurasyid, M, Smith, AV, Doerr, M, Kerr, KF, Magnani, JW, Del Greco, F, Zhang, W, Nolte, IM, Silva, CT, Padmanabhan, S, Tragante, V, Esko, T, Abecasis, GR, Adriaens, ME, Andersen, K, Barnett, P, Bis, JC, Bodmer, R, Buckley, BM, Campbell, H, Cannon, MV, Chakravarti, A, Chen, LY, Delitala, A, Devereux, RB, Doevendans, PA, Dominiczak, AF, Ferrucci, L, Ford, I, Gieger, C, Harris, TB, Haugen, E, Heinig, M, Hernandez, DG, Hillege, HL, Hirschhorn, JN, Hofman, A, Hubner, N, Hwang, S-J, Iorio, A, Kahonen, M, Kellis, M, Kolcic, I, Kooner, IK, Kooner, JS, Kors, JA, Lakatta, EG, Lage, K, Launer, LJ, Levy, D, Lundby, A, Macfarlane, PW, May, D, Meitinger, T, Metspalu, A, Nappo, S, Naitza, S, Neph, S, Nord, AS, Nutile, T, Okin, PM, Olsen, JV, Oostra, BA, Penninger, JM, Pennacchio, LA, Pers, TH, Perz, S, Peters, A, Pinto, YM, Pfeufer, A, Pilia, MG, Pramstaller, PP, Prins, BP, Raitakari, OT, Raychaudhuri, S, Rice, KM, Rossin, EJ, Rotter, JI, Schafer, S, Schlessinger, D, Schmidt, CO, Sehmi, J, Sillje, HHW, Sinagra, G, Sinner, MF, Slowikowski, K, Soliman, EZ, Spector, TD, Spiering, W, Stamatoyannopoulos, JA, Stolk, RP, Strauch, K, Tan, S-T, Tarasov, KV, Trinh, B, Uitterlinden, AG, van den Boogaard, M, van Duijn, CM, van Gilst, WH, Viikari, JS, Visscher, PM, Vitart, V, Voelker, U, Waldenberger, M, Weichenberger, CX, Westra, H-J, Wijmenga, C, Wolffenbuttel, BH, Yang, J, Bezzina, CR, Munroe, PB, Snieder, H, Wright, AF, Rudan, I, Boyer, LA, Asselbergs, FW, van Veldhuisen, DJ, Stricker, BH, Psaty, BM, Ciullo, M, Sanna, S, Lehtimaki, T, Wilson, JF, Bandinelli, S, Alonso, A, Gasparini, P, Jukema, JW, Kaeaeb, S, Gudnason, V, Felix, SB, Heckbert, SR, de Boer, RA, Newton-Cheh, C, Hicks, AA, Chambers, JC, Jamshidi, Y, Visel, A, Christoffels, VM, Isaacs, A, Samani, NJ, de Bakker, PIW
المصدر: Journal of the American College of Cardiology , 68 (13) pp. 1435-1448. (2016)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Cardiac & Cardiovascular Systems, Cardiovascular System & Cardiology, electrocardiogram, genetic association study, heart failure, left ventricular hypertrophy, QRS, LEFT-VENTRICULAR HYPERTROPHY, CARDIAC-HYPERTROPHY, REGULATORY DNA, MORTALITY, DISEASE, VOLTAGE, DYSFUNCTION, GENOME, HEART
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/1523921/1/Asselbergs_52%20Genetic%20Loci%20Influencing.pdf; https://discovery.ucl.ac.uk/id/eprint/1523921/
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14Academic Journal
المؤلفون: Kvon, EZ, Kamneva, OK, Melo, US, Barozzi, I, Osterwalder, M, Mannion, BJ, Tissières, V, Pickle, CS, Plajzer-Frick, I, Lee, EA, Kato, M, Garvin, TH, Akiyama, JA, Afzal, V, Lopez-Rios, J, Rubin, EM, Dickel, DE, Pennacchio, LA, Visel, A
المصدر: 642.e11 ; 633
مصطلحات موضوعية: 06 Biological Sciences, 11 Medical and Health Sciences, Developmental Biology
Relation: Cell; http://hdl.handle.net/10044/1/81248
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15Academic Journal
المؤلفون: Dickel, DE, Barozzi, I, Zhu, Y, Fukuda-Yuzawa, Y, Osterwalder, M, Mannion, BJ, May, D, Spurrell, CH, Plajzer-Frick, I, Pickle, CS, Lee, E, Garvin, TH, Kato, M, Akiyama, JA, Afzal, V, Lee, AY, Gorkin, DU, Ren, B, Rubin, EM, Visel, A, Pennacchio, LA
Relation: Nature Communications; http://hdl.handle.net/10044/1/81232
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16Academic Journal
المؤلفون: Cordeddu, V, Yin, Jc, Gunnarsson, C, Virtanen, C, Drunat, S, Lepri, F, De Luca, A, Rossi, C, Ciolfi, A, Pugh, Tj, Bruselles, A, Priest, Jr, Pennacchio, La, Lu, Z, Danesh, A, Quevedo, R, Hamid, A, Martinelli, S, Pantaleoni, F, Gnazzo, M, Daniele, P, Lissewski, C, BOCCHINFUSO, GIANFRANCO, STELLA, LORENZO, Odent, S, Philip, N, Faivre, L, Vlckova, M, Seemanova, E, Digilio, C, Zenker, M, Zampino, G, Verloes, A, Dallapiccola, B, Roberts, Ae, Cave, H, Gelb, Bd, Neel, Bg, Tartaglia, M.
المساهمون: Cordeddu, V, Yin, J, Gunnarsson, C, Virtanen, C, Drunat, S, Lepri, F, De Luca, A, Rossi, C, Ciolfi, A, Pugh, T, Bruselles, A, Priest, J, Pennacchio, L, Lu, Z, Danesh, A, Quevedo, R, Hamid, A, Martinelli, S, Pantaleoni, F, Gnazzo, M, Daniele, P, Lissewski, C, Bocchinfuso, G, Stella, L, Odent, S, Philip, N, Faivre, L, Vlckova, M, Seemanova, E, Digilio, C, Zenker, M, Zampino, G, Verloes, A, Dallapiccola, B, Roberts, A, Cave, H, Gelb, B, Neel, B, Tartaglia, M
مصطلحات موضوعية: Noonan syndrome, RAS signaling, SOS2, genotype-phenotype correlations, Settore CHIM/02 - CHIMICA FISICA
Relation: info:eu-repo/semantics/altIdentifier/pmid/26173643; info:eu-repo/semantics/altIdentifier/wos/WOS:000362991400011; firstpage:n/a; lastpage:n/a; journal:HUMAN MUTATION; http://hdl.handle.net/2108/118204; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84944179450
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17Academic Journal
المؤلفون: Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M., FERRERO, Giovanni Battista
المساهمون: Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M.
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/19684605; info:eu-repo/semantics/altIdentifier/wos/WOS:000269382100016; volume:41; issue:9; firstpage:1022; lastpage:1026; numberofpages:5; journal:NATURE GENETICS; http://hdl.handle.net/2318/62970; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-69349105766; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765465/
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18Brg1 coordinates multiple processes during retinogenesis and is a tumor suppressor in retinoblastoma
المؤلفون: Aldiri, I, Ajioka, I, Xu, B, Zhang, J, Chen, X, Benavente, C, Finkelstein, D, Johnson, D, Akiyama, J, Pennacchio, LA, Dyer, MA
مصطلحات موضوعية: 59 BASIC BIOLOGICAL SCIENCES, 60 APPLIED LIFE SCIENCES
وصف الملف: application/pdf
Relation: http://www.osti.gov/servlets/purl/1378673; https://www.osti.gov/biblio/1378673; https://doi.org/10.1242/dev.124800
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19Academic Journal
المؤلفون: Osterwalder, M, Barozzi, I, Tissières, V, Fukuda-Yuzawa, Y, Mannion, BJ, Afzal, SY, Lee, EA, Zhu, Y, Plajzer-Frick, I, Pickle, CS, Kato, M, Garvin, TH, Pham, QT, Harrington, AN, Akiyama, JA, Afzal, V, Lopez-Rios, J, Dickel, DE, Visel, A, Pennacchio, LA
المصدر: 243 ; 239
مصطلحات موضوعية: General Science & Technology
Relation: Nature; http://hdl.handle.net/10044/1/81255
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20Conference
المؤلفون: Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M., FERRERO, Giovanni Battista
المساهمون: Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M
Relation: ispartofbook:Atti del XII Congresso Nazionale SIGU 2009; XII Congresso Nazionale SIGU 2009; firstpage:-; lastpage:-; numberofpages:1; http://hdl.handle.net/2318/73452
الاتاحة: http://hdl.handle.net/2318/73452