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1Academic Journal
المؤلفون: Chelban V(1)(2), Wilson MP(3), Warman Chardon J(4)(5)(6), Vandrovcova J(1), Zanetti MN(7), Zamba-Papanicolaou E(8)(9), Efthymiou S(1), Pope S(10), Conte MR(11), Abis G(11), Liu YT(12)(13)(14), Tribollet E(1), Haridy NA(1)(15), Botía JA(16)(17), Ryten M(16)(18), Nicolaou P(8)(9), Minaidou A(8)(9), Christodoulou K(8)(9), Kernohan KD(6)(19), Eaton A(6), Osmond M(6), Ito Y(6), Bourque P(4)(5), Jepson JEC(7), Bello O(7), Bremner F(20), Cordivari C(21), Reilly MM(1), Foiani M(21)(22), Heslegrave A(22)(23), Zetterberg H(22)(23)(24)(25), Heales SJR(10), Wood NW(1)(26), Rothman JE(7)(27), Boycott KM(6), Mills PB(3), Clayton PT(3), Houlden H(1)(26), Care4Rare Canada Consortium and the SYNaPS Study Group(6). Collaborators: Kriouile Y, Khorassani ME, Aguennouz M, Groppa S, Marinova Karashova B, Van Maldergem L, Nachbauer W, Boesch S, Arning L, Timmann D, Cormand B, Pérez-Dueñas B, Di Rosa G, Goraya JS, Sultan T, Mine J, Avdjieva D, Kathom H, Tincheva R, Banu S, Pineda-Marfa M, Veggiotti P, Ferrari MD, van den Maagdenberg AMJM, Verrotti A, Marseglia G, Savasta S, García-Silva M, Ruiz AM, Garavaglia B, Borgione E, Portaro S, Sanchez BM, Boles R, Papacostas S, Vikelis M, Rothman J, Giunti P, Houlden H, Chelban V, Salpietro V, Oconnor E, Efthymiou S, Kullmann D, Kaiyrzhanov R, Sullivan R, Khan AM, Yau WY, Hostettler I, Papanicolaou EZ, Dardiotis E, Maqbool S, Ibrahim S, Kirmani S, Rana NN, Atawneh O, Lim SY, Shaikh F, Koutsis G, Breza M, Mangano S, Scuderi C, Morello G, Stojkovic T, Torti E, Zollo M, Heimer G, Dauvilliers YA, Striano P, Al-Khawaja I, Al-Mutairi F, Alkuraya FS, Sherifa H, Rizig M, Okubadejo NU, Ojo OO, Oshinaike OO, Wahab K, Bello AH, Abubakar S, Obiabo Y, Nwazor E, Ekenze O, Williams U, Iyagba A, Taiwo L, Komolafe M, Oguntunde O, Pchelina S, Senkevich K, Haridy N, Shashkin C, Zharkynbekova N, Koneyev K, Manizha G, Isrofilov M, Guliyeva U, Salayev K, Khachatryan S, Rossi S, Silvestri G, Bourinaris T, Xiromerisiou G, Fidani L, Spanaki C, Tucci A.
المساهمون: Chelban, V(1)(2), Wilson, MP(3), Warman Chardon, J(4)(5)(6), Vandrovcova, J(1), Zanetti, MN(7), Zamba-Papanicolaou, E(8)(9), Efthymiou, S(1), Pope, S(10), Conte, MR(11), Abis, G(11), Liu, YT(12)(13)(14), Tribollet, E(1), Haridy, NA(1)(15), Botía, JA(16)(17), Ryten, M(16)(18), Nicolaou, P(8)(9), Minaidou, A(8)(9), Christodoulou, K(8)(9), Kernohan, KD(6)(19), Eaton, A(6), Osmond, M(6), Ito, Y(6), Bourque, P(4)(5), Jepson, JEC(7), Bello, O(7), Bremner, F(20), Cordivari, C(21), Reilly, MM(1), Foiani, M(21)(22), Heslegrave, A(22)(23), Zetterberg, H(22)(23)(24)(25), Heales, SJR(10), Wood, NW(1)(26), Rothman, JE(7)(27), Boycott, KM(6), Mills, PB(3), Clayton, PT(3), Houlden, H(1)(26), Care4Rare Canada Consortium and the SYNaPS Study Group(6)., Collaborators: Kriouile Y, Khorassani, Me, Aguennouz, M, Groppa, S, Marinova Karashova, B, Van Maldergem, L, Nachbauer, W, Boesch, S, Arning, L, Timmann, D, Cormand, B, Pérez-Dueñas, B, Di Rosa, G, Goraya, J, Sultan, T, Mine, J, Avdjieva, D, Kathom, H, Tincheva, R, Banu, S, Pineda-Marfa, M, Veggiotti, P, Ferrari, Md, van den Maagdenberg, Amjm, Verrotti, A, Marseglia, G, Savasta, S, García-Silva, M, Ruiz, Am, Garavaglia, B, Borgione, E, Portaro, S, Sanchez, Bm, Boles, R, Papacostas, S, Vikelis, M, Rothman, J, Giunti, P, Houlden, H, Chelban, V, Salpietro, V, Oconnor, E, Efthymiou, S, Kullmann, D, Kaiyrzhanov, R, Sullivan, R, Khan, Am, Yau, Wy, Hostettler, I, Papanicolaou, Ez, Dardiotis, E, Maqbool, S, Ibrahim, S, Kirmani, S, Rana, Nn, Atawneh, O, Lim, Sy, Shaikh, F, Koutsis, G, Breza, M, Mangano, S, Scuderi, C
مصطلحات موضوعية: CHARCOT-MARIE-TOOTH, CMT NEUROPATHY SCORE, LOCAL TRANSLATION, DISEASE, RELIABILITY, MECHANISMS, DISCOVERY, FRAMEWORK, KINASE, PLASMA
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/31187503; info:eu-repo/semantics/altIdentifier/wos/WOS:000473919500001; volume:86; issue:2; firstpage:225; lastpage:240; numberofpages:16; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11570/3161942; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068354982; wileyonlinelibrary.com
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2Academic Journal
المؤلفون: Chelban, V, Wilson, MP, Warman Chardon, J, Vandrovcova, J, Zanetti, MN, Zamba-Papanicolaou, E, Efthymiou, S, Pope, S, Conte, MR, Abis, G, Liu, Y-T, Tribollet, E, Haridy, NA, Botía, JA, Ryten, M, Nicolaou, P, Minaidou, A, Christodoulou, K, Kernohan, KD, Eaton, A, Osmond, M, Ito, Y, Bourque, P, Jepson, JEC, Bello, O, Bremner, F, Cordivari, C, Reilly, MM, Foiani, M, Heslegrave, A, Zetterberg, H, Heales, SJR, Wood, NW, Rothman, JE, Boycott, KM, Mills, PB, Clayton, PT, Houlden, H, Care4Rare Canada Consortium, ., SYNaPS Study Group, .
المصدر: Annals of Neurology (2019) (In press).
مصطلحات موضوعية: PDXK, optic atrophy, polyneuropathy, pyridoxal kinase, vitamin B6
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10076271/7/Abis_PDXK%20mutations%20cause%20polyneuropathy%20responsive%20to%20PLP%20supplementation_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10076271/
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3Academic Journal
المؤلفون: Ito, Y, Carss, KJ, Duarte, ST, Hartley, T, Keren, B, Kurian, MA, Marey, I, Charles, P, Mendonça, C, Nava, C, Pfundt, R, Sanchis-Juan, A, Van Bokhoven, H, Van Essen, A, Van Ravenswaaij-Arts, C, Boycott, KM, Kernohan, KD, Dyack, S, Raymond, FL, Aitman, T, Bennett, D, Caulfield, M, Chinnery, P, Gale, D, Koziell, A, Kuijpers, TW, Laffan, MA, Maher, E, Markus, HS, Morrell, NW, Ouwehand, WH, Perry, DJ, Roberts, I, Smith, KGC, Thrasher, A, Watkins, H, Williamson, C, Woods, G, Ashford, S, Bradley, JR, Fletcher, D, Hammerton, T, James, R, Kingston, N, Penkett, CJ, Stirrups, K, Veltman, M, Young, T, Brown, M, Clements-Brod, N, Davis, J, Dewhurst, E, Dolling, H, Erwood, M, Frary, A, Linger, R, Martin, JM, Papadia, S, Rehnstrom, K, Stark, H, Allsup, D, Austin, S, Bakchoul, T, Bariana, TK, Bolton-Maggs, P, Chalmers, E, Collins, J, Collins, P, Erber, WN, Everington, T, Favier, R, Freson, K, Furie, B, Gattens, M, Gebhart, J, Gomez, K, Greene, D, Greinacher, A, Gresele, P, Hart, D, Heemskerk, JWM, Henskens, Y, Kazmi, R, Keeling, D, Kelly, AM, Lambert, MP, Lentaigne, C, Liesner, R, Makris, M, Mangles, S, Mathias, M, Millar, CM, Mumford, A, Nurden, P, Payne, J, Pasi, J, Peerlinck, K, Revel-Vilk, S, Richards, M, Rondina, M, Roughley, C, Schulman, S, Schulze, H, Scully, M, Sivapalaratnam, S, Stubbs, M, Tait, RC, Talks, K, Thachil, J, Toh, C-H, Turro, E, Van Geet, C, De Vries, M, Warner, TQ, Watson, H, Westbury, S, Furnell, A, Mapeta, R, Rayner-Matthews, P, Simeoni, I, Staines, S, Stephens, J, Watt, C, Whitehorn, D, Attwood, A, Daugherty, L, Deevi, SVV, Halmagyi, C, Hu, F, Matser, V, Meacham, S, Megy, K, Shamardina, O, Titterton, C, Tuna, S, Yu, P, Von Ziegenweldt, J, Astle, W, Bleda, M, Gräf, S, Haimel, M, Lango-Allen, H, Richardson, S, Calleja, P, Rankin, S, Turek, W, Anderson, J, Bryson, C, Carmichael, J, McJannet, C, Stock, S, Allen, L, Ambegaonkar, G, Armstrong, R, Arno, G, Bitner-Glindzicz, M, Brady, A, Canham, N, Chitre, M, Clement, E, Clowes, V, Deegan, P, Deshpande, C, Doffinger, R, Firth, H, Flinter, F, French, C, Gardham, A, Ghali, N, Gissen, P, Grozeva, D, Henderson, R, Hensiek, A, Holden, S, Holder, M, Holder, S, Hurst, J, Josifova, D, Krishnakumar, D, Lees, M, Maclaren, R, Maw, A, Mehta, S, Michaelides, M, Moore, A, Murphy, E, Park, S-M, Parker, A, Patch, C, Paterson, J, Rankin, J, Reid, E, Rosser, E, Sandford, R, Santra, S, Scott, R, Sohal, A, Stein, P, Thomas, E, Thompson, D, Tischkowitz, M, Vogt, J, Wakeling, E, Wassmer, E, Webster, A, Ali, S, Boggard, HJ, Church, C, Coghlan, G, Cookson, V, Corris, PA, Creaser-Myers, A, Dacosta, R, Dormand, N, Eyries, M, Gall, H, Ghataorhe, PK, Ghio, S, Ghofrani, A, Gibbs, JSR, Girerd, B, Greenhalgh, A, Hadinnapola, C, Houweling, AC, Humbert, M, Veld, AH, Kennedy, F, Kiely, DG, Kovacs, G, Lawrie, A, Ross, RVM, Machado, R, Masati, L, Meehan, S, Moledina, S, Montani, D, Othman, S, Peacock, AJ, Pepke-Zaba, J, Pollock, V, Polwarth, G, Ranganathan, L, Rhodes, CJ, Rue-Albrecht, K, Schotte, G, Shipley, D, Soubrier, F, Southgate, L, Scelsi, L, Suntharalingam, J, Tan, Y, Toshner, M, Treacy, CM, Trembath, R, Noordegraaf, AV, Walker, S, Wanjiku, I, Wharton, J, Wilkins, M, Wort, SJ, Yates, K, Alachkar, H, Antrobus, R, Arumugakani, G, Bacchelli, C, Baxendale, H, Bethune, C, Bibi, S, Booth, C, Browning, M, Burns, S, Chandra, A, Cooper, N, Davies, S, Devlin, L, Drewe, E, Edgar, D, Egner, W, Ghurye, R, Gilmour, K, Goddard, S, Gordins, P, Grigoriadou, S, Hackett, S, Hague, R, Harper, L, Hayman, G, Herwadkar, A, Huissoon, A, Jolles, S, Kelleher, P, Kumararatne, D, Lear, S, Longhurst, H, Lorenzo, L, Maimaris, J, Manson, A, McDermott, E, Murng, S, Nejentsev, S, Noorani, S, Oksenhendler, E, Ponsford, M, Qasim, W, Quinti, I, Richter, A, Samarghitean, C, Sargur, R, Savic, S, Seneviratne, S, Sewell, C, Staples, E, Stauss, H, Thaventhiran, J, Thomas, M, Welch, S, Willcocks, L, Yeatman, N, Yong, P, Ancliff, P, Babbs, C, Layton, M, Louka, E, McGowan, S, Mead, A, Roy, N, Chambers, J, Dixon, P, Estiu, C, Hague, B, Marschall, H-U, Simpson, M, Chong, S, Emmerson, I, Ginsberg, L, Gosal, D, Hadden, R, Horvath, R, Mahdi-Rogers, M, Manzur, A, Marshall, A, Matthews, E, McCarthy, M, Reilly, M, Renton, T, Rice, A, Themistocleous, A, Vale, T, Van Zuydam, N, Ormondroyd, L, Hudson, G, Wei, W, Man, P, Whitworth, J, Afzal, M, Colby, E, Saleem, M, Alavijeh, OS, Cook, HT, Johnson, S, Levine, AP, Wong, EKS, Tan, R, Mackenzie, A, Majewski, J, Brudno, M, Bulman, D, Dyment, D
Relation: https://ora.ox.ac.uk/objects/uuid:1ae68034-4aff-4784-9e83-ec80662de0ea; https://doi.org/10.1016/j.ajhg.2018.06.001
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4Academic Journal
المؤلفون: Bonnefoy, S, Watson, CM, Kernohan, KD, Lemos, M, Hutchinson, S, Poulter, JA, Crinnion, LA, Berry, I, Simmonds, J, Vasudevan, P, O'Callaghan, C, Hirst, RA, Rutman, A, Huang, L, Hartley, T, Grynspan, D, Moya, E, Li, C, Carr, IM, Bonthron, DT, Leroux, M, Consortium, CC, Boycott, KM, Bastin, P, Sheridan, EG
وصف الملف: text
Relation: https://eprints.whiterose.ac.uk/140116/3/latest%20revision%20SB_PB2_corrections%281%29.pdf; Bonnefoy, S, Watson, CM, Kernohan, KD et al. (22 more authors) (2018) Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. American Journal of Human Genetics, 103 (5). pp. 727-739. ISSN 0002-9297
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5Academic Journal
المؤلفون: McMillan, HJ, Gillespie, MK, Kernohan, KD, Myer-Schuman, R, Antonellis, A, Boycott, KM
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 45, issue s2, page S34-S35 ; ISSN 0317-1671 2057-0155
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6Academic Journal
المؤلفون: Kernohan, KD, McMillan, HJ, McBride, A, Hartley, T, Dyment, DA, Boycott, KM
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 45, issue s2, page S51-S51 ; ISSN 0317-1671 2057-0155
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7Academic Journal
المؤلفون: Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B.
المساهمون: M. Levy, R. Relator, H. Mcconkey, E. Pranckeviciene, J. Kerkhof, M. Barat-Houari, S. Bargiacchi, E. Biamino, M. Palomares Bralo, G. Cappuccio, A. Ciolfi, A. Clarke, B. Dupont, M. Elting, L. Faivre, T. Fee, M. Ferilli, R. Fletcher, F. Cherick, A. Foroutan, M. Friez, C. Gervasini, S. Haghshena, B. Hilton, Z. Jenkin, S. Kaur, S. Lewi, R. Louie, S. Maitz, D. Milani, A. Morgan, R. Oegema, E. Østergaard, N. Pallare, M. Piccione, A. Plomp, C. Poulton, J. Reilly, R. Riu, S. Robertson, K. Rooney, J. Rousseau, G. Santen, F. Santos-Simarro, J. Schijn, G. Squeo, M. John, C. Thauvin-Robinet, G. Traficante, P. van der Sluij, S. Vergano, N. Vo, K. Walden, D. Azmanov, T. Balci, S. Banka, J. Gecz, P. Henneman, J. Lee, M. Mannen, T. Roscioli, V. Siu, D. Amor, G. Baynam, E. Bend, K. Boycott, N. Brunetti-Pierri, P. Campeau, D. Campion, J. Christodoulou, D. Dyment, N. Esber, J. Fahrner, M. Fleming, D. Genevieve, D. Heron, T. Husson, K. Kernohan, A. Mcneill, L. Menke, G. Merla, P. Prontera, C. Rockman-Greenberg, C. Schwartz, S. Skinner, R. Stevenson, M. Vincent, A. Vitobello, M. Tartaglia, M. Alder, M. Tedder, B. Sadikovic
مصطلحات موضوعية: DNA methylation, clinical diagnostic, episignature, neurodevelopmental syndrome, Settore MED/03 - Genetica Medica
Relation: info:eu-repo/semantics/altIdentifier/pmid/35904121; info:eu-repo/semantics/altIdentifier/wos/WOS:000842416800001; volume:43; issue:11; firstpage:1609; lastpage:1628; numberofpages:20; journal:HUMAN MUTATION; https://hdl.handle.net/2434/991312; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136511967
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8Academic Journal
المؤلفون: Calame, DG, Herman, I, Maroofian, R, Marshall, AE, Carvalho Donis, K, Fatih, JM, Mitani, T, Du, H, Grochowski, CM, Sousa, S, Gijavanekar, C, Bakhtiari, S, Ito, YA, Rocca, C, Hunter, JV, Sutton, VR, Emrick, LT, Boycott, KM, Lossos, A, Fellig, Y, Prus, E, Kalish, Y, Meiner, V, Suerink, M, Ruivenkamp, C, Muirhead, K, Saadi, NW, Zaki, MS, Bouman, A, Barakat, TS, Skidmore, DL, Osmond, M, Oliveira Silva, T, Murphy, D, Ghayoor Karimiani, E, Jamshidi, Y, Ghanim Jaddoa, A, Tajsharghi, H, Jin, SC, Abbaszadegan, MR, Ebrahimzadeh-Vesal, R, Hosseini, S, Alavi, S, Bahreini, A, Zarean, E, Salehi, MM, Al-Sannaa, NA, Zifarelli, G, Bauer, P, Robson, S, Coban-Akdemir, Z, Travaglini, L, Nicita, F, Jhangiani, SN, Gibbs, RA, Posey, JE, Kruer, MC, Kernohan, KD, Morales Saute, JA, Houlden, H, Vanderver, A, Elsea, SH, Pehlivan, D, Marafi, D, Lupski, JR
وصف الملف: application/pdf
Relation: https://openaccess.sgul.ac.uk/id/eprint/114315/1/Annals%20of%20Neurology%20-%202022%20-%20Calame%20-%20Biallelic%20variants%20in%20the%20ectonucleotidase%20ENTPD1%20cause%20a%20complex%20neurodevelopmental.pdf; Calame, DG; Herman, I; Maroofian, R; Marshall, AE; Carvalho Donis, K; Fatih, JM; Mitani, T; Du, H; Grochowski, CM; Sousa, S; et al. Calame, DG; Herman, I; Maroofian, R; Marshall, AE; Carvalho Donis, K; Fatih, JM; Mitani, T; Du, H; Grochowski, CM; Sousa, S; Gijavanekar, C; Bakhtiari, S; Ito, YA; Rocca, C; Hunter, JV; Sutton, VR; Emrick, LT; Boycott, KM; Lossos, A; Fellig, Y; Prus, E; Kalish, Y; Meiner, V; Suerink, M; Ruivenkamp, C; Muirhead, K; Saadi, NW; Zaki, MS; Bouman, A; Barakat, TS; Skidmore, DL; Osmond, M; Oliveira Silva, T; Murphy, D; Ghayoor Karimiani, E; Jamshidi, Y; Ghanim Jaddoa, A; Tajsharghi, H; Jin, SC; Abbaszadegan, MR; Ebrahimzadeh-Vesal, R; Hosseini, S; Alavi, S; Bahreini, A; Zarean, E; Salehi, MM; Al-Sannaa, NA; Zifarelli, G; Bauer, P; Robson, S; Coban-Akdemir, Z; Travaglini, L; Nicita, F; Jhangiani, SN; Gibbs, RA; Posey, JE; Kruer, MC; Kernohan, KD; Morales Saute, JA; Houlden, H; Vanderver, A; Elsea, SH; Pehlivan, D; Marafi, D; Lupski, JR (2022) Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, distinct white matter abnormalities, and spastic paraplegia. Ann Neurol, 92 (2). pp. 304-321. ISSN 1531-8249 https://doi.org/10.1002/ana.26381 SGUL Authors: Jamshidi, Yalda
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9Academic Journal
المؤلفون: Watson, LA, Wang, X, Elbert, A, Kernohan, KD, Galjart, Niels, Berube, NG
المصدر: Watson , LA , Wang , X , Elbert , A , Kernohan , KD , Galjart , N & Berube , NG 2014 , ' Dual Effect of CTCF Loss on Neuroprogenitor Differentiation and Survival ' , Journal of Neuroscience , vol. 34 , no. 8 , pp. 2860-2870 . https://doi.org/10.1523/JNEUROSCI.3769-13.2014
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC021302, name=EMC MGC-02-13-02
وصف الملف: application/pdf