المؤلفون: Fuerte, EPA, Nguyen, J, Mehaffey, M, Sulovari, A, Wang, TY, Galey, M, Miller, DE, Eichler, EE, Mefford, HC, Khalil, BA, Afawi, ZA, Allen, AS, Amrom, D, Andermann, E, Bautista, JF, Bellows, ST, Berkovic, SF, Bluvstein, J, Boro, A, Burgess, R, Cascino, GD, Chung, SK, Consalvo, D, Cossette, P, Crompton, DE, Crumrine, P, Curtis, SW, Delanty, N, Devinsky, O, Dlugos, D, Ellis, CA, Epstein, MP, Fiol, M, Fountain, NB, Freyer, C, Friedman, D, Geller, EB, Glauser, T, Glynn, S, Goldstein, DB, Gravel, M, Haas, K, Harris, RV, Haut, S, Heinzen, EL, Helmers, S, Henry, OJ, Joshi, S, Kirsch, HE, Kivity, S, Knowlton, RC, Kossoff, E, Kuzniecky, R, Loeb, R, Lowenstein, DH, Marson, AG, McCormack, M, McGuire, SM, McKenna, K, Motika, PV, Mullen, SA, Novotny, EJ, O'Brien, TJ, Oliver, KL, Ottman, R, Paolicchi, JM, Parent, JM, Park, KL, Paterson, SJ, Petrovski, S, Pickrell, WO, Poduri, A, Rees, MI, Sadleir, LG, Scheffer, IE, Shellhaas, RA, Sherr, EH, Shih, JJ, Shinnar, S, Singh, RK, Sirven, J, Smith, MC, Smith, PEM, Sperling, MR, Sullivan, J, Thio, LL, Thomas, RH, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, J, Widdess-Walsh, P, Winawer, MR

المصدر: Epilepsia. 65(3):792-804

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:155315414Test

المؤلفون: Langhammer, F, Maroofian, R, Badar, R, Gregor, A, Rochman, M, Ratliff, JB, Koopmans, M, Herget, T, Hempel, M, Kortüm, F, Heron, D, Mignot, C, Keren, B, Brooks, S, Botti, C, Ben-Zeev, B, Argilli, E, Sherr, EH, Gowda, VK, Srinivasan, VM, Bakhtiari, S, Kruer, MC, Salih, MA, Kuechler, A, Muller, EA, Blocker, K, Kuismin, O, Park, KL, Kochhar, A, Brown, K, Ramanathan, S, Clark, RD, Elgizouli, M, Melikishvili, G, Tabatadze, N, Stark, Z, Mirzaa, GM, Ong, J, Grasshoff, U, Bevot, A, von Wintzingerode, L, Jamra, RA, Hennig, Y, Goldenberg, P, Al Alam, C, Charif, M, Boulouiz, R, Bellaoui, M, Amrani, R, Al Mutairi, F, Tamim, AM, Abdulwahab, F, Alkuraya, FS, Khouj, EM, Alvi, JR, Sultan, T, Hashemi, N, Karimiani, EG, Ashrafzadeh, F, Imannezhad, S, Efthymiou, S, Houlden, H, Sticht, H, Zweier, C

المصدر: Genetics in Medicine , 25 (8) , Article 100885. (2023)

مصطلحات موضوعية: Developmental and epileptic encephalopathy, Intellectual disability, Neurodevelopmental disorder, RHOBTB2, Seizures

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10173027Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10173027Test/

المؤلفون: LaFlamme, CW, Rastin, C, Sengupta, S, Pennington, HE, Russ-Hall, SJ, Schneider, AL, Bonkowski, ES, Almanza Fuerte, EP, Galey, M, Goffena, J, Gibson, SB, Allan, TJ, Nyaga, DM, Lieffering, N, Hebbar, M, Walker, EV, Darnell, D, Olsen, SR, Kolekar, P, Djekidel, N, Rosikiewicz, W, McConkey, H, Kerkhof, J, Levy, MA, Relator, R, Lev, D, Lerman-Sagie, T, Park, KL, Alders, M, Cappuccio, G, Chatron, N, Demain, L, Genevieve, D, Lesca, G, Roscioli, T, Sanlaville, D, Tedder, ML, Hubshman, MW, Ketkar, S, Dai, H, Worley, KC, Rosenfeld, JA, Chao, H-T, Undiagnosed Diseases Network, Neale, G, Carvill, GL, University of Washington Center for Rare Disease Research, Wang, Z, Berkovic, SF, Sadleir, LG, Miller, DE, Scheffer, IE, Sadikovic, B, Mefford, HC

العلاقة: NHMRC/1172897; NHMRC/2010562; pii: 2023.10.11.23296741; LaFlamme, C. W., Rastin, C., Sengupta, S., Pennington, H. E., Russ-Hall, S. J., Schneider, A. L., Bonkowski, E. S., Almanza Fuerte, E. P., Galey, M., Goffena, J., Gibson, S. B., Allan, T. J., Nyaga, D. M., Lieffering, N., Hebbar, M., Walker, E. V., Darnell, D., Olsen, S. R., Kolekar, P. ,. Mefford, H. C. (2023). Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature. medRxiv, 4 (10-23), pp.2023.10.11.23296741-. https://doi.org/10.1101/2023.10.11.23296741Test.; http://hdl.handle.net/11343/343960Test

الإتاحة: https://doi.org/10.1101/2023.10.11.23296741Test
http://hdl.handle.net/11343/343960Test

المؤلفون: Park KL, Budaj A, Goldberg RJ, Anderson FA Jr, Kennelly BM, Gurfinkel EP, Fitzgerald G, Gore JM, Grace Investigators, AGNELLI, Giancarlo

المساهمون: Park, Kl, Budaj, A, Goldberg, Rj, Anderson FA, Jr, Agnelli, Giancarlo, Kennelly, Bm, Gurfinkel, Ep, Fitzgerald, G, Gore, Jm, Grace, Investigators

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22608950; info:eu-repo/semantics/altIdentifier/wos/WOS:000308618200003; journal:THE AMERICAN JOURNAL OF CARDIOLOGY; http://hdl.handle.net/11391/918181Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84864925505

الإتاحة: https://doi.org/10.1016/j.amjcard.2012.04.040Test
http://hdl.handle.net/11391/918181Test

المؤلفون: PARK, Kl, BAVRY, ANTHONY A.

المصدر: Cleveland Clinic Journal of Medicine; May2013, Vol. 80 Issue 5, p318-326, 9p

المؤلفون: Park KL, Smith RE, Rao NA, Park, K L, Smith, R E, Rao, N A

المصدر: Current Opinion in Ophthalmology; 1995 Dec, Vol. 6 Issue 6, p82-87, 6p

المؤلفون: Lee JW (AUTHOR), Lee CK (AUTHOR), Moon CS (AUTHOR), Choi IJ (AUTHOR), Lee KJ (AUTHOR), Yi SM (AUTHOR), Jang BK (AUTHOR), Yoon BJ (AUTHOR), Kim DS (AUTHOR), Peak D (AUTHOR), Sul D (AUTHOR), Oh E (AUTHOR), Im H (AUTHOR), Kang HS (AUTHOR), Kim J (AUTHOR), Lee JT (AUTHOR), Kim K (AUTHOR), Park KL (AUTHOR), Ahn R (AUTHOR), Park SH (AUTHOR)

المصدر: International Journal of Hygiene & Environmental Health. Jul2012, Vol. 215 Issue 4, p449-457. 9p.