يعرض 1 - 9 نتائج من 9 نتيجة بحث عن '"Kernohan KD"', وقت الاستعلام: 0.42s تنقيح النتائج
  1. 1
    Academic 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

    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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    Academic Journal
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    Academic 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

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    Academic Journal
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    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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    Academic Journal

    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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    Academic Journal

    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

    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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    Academic Journal

    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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    Academic Journal

    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

    وصف الملف: application/pdf