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1دورية أكاديمية
المؤلفون: Montanucci, L, Lewis-Smith, D, Collins, RL, Niestroj, L-M, Parthasarathy, S, Xian, J, Ganesan, S, Macnee, M, Brünger, T, Thomas, RH, Talkowski, M, Helbig, I, Leu, C, Lal, D
المساهمون: Collaborative, Epi25, Newton, CRJ
العلاقة: https://ora.ox.ac.uk/objects/uuid:342033db-6858-4aa3-bb9f-c41d2c7bf850Test; https://doi.org/10.1038/s41467-023-39539-6Test
الإتاحة: https://doi.org/10.1038/s41467-023-39539-6Test
https://ora.ox.ac.uk/objects/uuid:342033db-6858-4aa3-bb9f-c41d2c7bf850Test -
2دورية أكاديمية
المؤلفون: Mahmoud, M., Huang, Y., Garimella, K., Audano, P. A., Wan, W., Prasad, N., Handsaker, R. E., Hall, S., Pionzio, A., Schatz, M. C., Talkowski, M. E., Eichler, E. E., Levy, S. E., Sedlazeck, F. J.
المساهمون: U.S. Department of Health & Human Services | NIH | U.S. National Library of Medicine
المصدر: Nature Communications ; volume 15, issue 1 ; ISSN 2041-1723
مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41467-024-44804-3Test
https://www.nature.com/articles/s41467-024-44804-3.pdfTest
https://www.nature.com/articles/s41467-024-44804-3Test -
3دورية أكاديمية
المؤلفون: Montanucci L., Lewis-Smith D., Collins R. L., Niestroj L. -M., Parthasarathy S., Xian J., Ganesan S., Macnee M., Brunger T., Thomas R. H., Talkowski M., Motelow J. E., Povysil G., Dhindsa R. S., Stanley K. E., Allen A. S., Goldstein D. B., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A. E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B. M., Berkovic S. F., Lerche H., Lowenstein D. H., Cavalleri G. L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Sisodiya S. M., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bennett C. A., Leech S. L., Leu C., O'Brien T. J., Todaro M., Stamberger H., Depondti C., Andrade D. M., Ali Q. Z., Sadoway T. R., Krestel H., Schaller A., Papacostas S. S., Kousiappa I., Tanteles G. A., Yiolanda C., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Neubauer B. A., Zimprich F., Feucht M., Reinthaler E., Kunz W. S., Zsurka G., Surges R., Baumgartner T. H., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Lauxmann S., Bosselmann C., Kegele J., Hengsbach C., Rau S., Steinhoff B. J., Schulze-Bonhage A., Borggrafe I., Schankin C. J., Schubert-Bast S., Schreiber H., Mayer T., Korinthenberg R., Brockmann K., Wolff M., Dennig D., Madeleyn R., Kalviainen R., Saarela A., Timonen O., Linnankivi T., Lehesjoki A. -E., Rheims S., Lesca G., Ryvlin P., Maillard L., Valton L., Derambure P., Bartolomei F., Hirsch E., Michel V., Chassoux F., Rees M. I., Chung S. -K., Pickrell W. O., Powell R. H. W., Baker M. D., Fonferko-Shadrach B., Lawthom C., Anderson J., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Delanty N., Doherty C. P., Shukralla A., El-Naggar H., Widdess-Walsh P., Barisic N., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Ragona F., Zara F., Iacomino M., Riva A., Madia F., Vari M. S., Salpietro V., Scala M., Mancardi M. M., Lino N., Amadori E., Giacomini T., Bisulli F., Pippucci T., Licchetta L., Minardi R., Tinuper P., Muccioli L., Mostacci B., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Barba C., Hirose S., Ishii A., Suzuki T., Inoue Y., Yamakawa K., Beydoun A., Nasreddine W., Khoueiry-Zgheib N., Tumiene B., Utkus A., Sadleir L. G., King C., Caglayan S. H., Arslan M., Yapici Z., Topaloglu P., Kara B., Yis U., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Tsai M. -H., Ho C. -J., Lin C. -H., Lin K. -L., Chou I. -J., Poduri A., Shiedley B. R., Shain C., Noebels J. L., Goldman A., Busch R. M., Jehi L., Najm I. M., Ferguson L., Khoury J., Glauser T. A., Clark P. O., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Greenberg D. A., Ellis C. A., Goldberg E., Helbig K. L., Cosico M., Vaidiswaran P., Fitch E., Newton C. R. J. C., Kariuki S. M., Wagner R. G., Owusu-Agyei S., Cole A. J., McGraw C. M., Siena S. A., Davis L., Hucks D., Faucon A., Wu D., Abou-Khalil B. W., Haas K., Taneja R. S., Epi25 Collaborative
المساهمون: Montanucci L., Lewis-Smith D., Collins R.L., Niestroj L.-M., Parthasarathy S., Xian J., Ganesan S., Macnee M., Brunger T., Thomas R.H., Talkowski M., Motelow J.E., Povysil G., Dhindsa R.S., Stanley K.E., Allen A.S., Goldstein D.B., Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A.E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B.M., Berkovic S.F., Lerche H., Lowenstein D.H., Cavalleri G.L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E.L., Helbig I., Kwan P., Marson A.G., Petrovski S., Kamalakaran S., Sisodiya S.M., Stewart R., Weckhuysen S., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B.M., Bennett C.A., Leech S.L., Leu C., O'Brien T.J., Todaro M., Stamberger H., Depondti C., Andrade D.M., Ali Q.Z., Sadoway T.R., Krestel H., Schaller A., Papacostas S.S., Kousiappa I., Tanteles G.A., Yiolanda C., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Neubauer B.A., Zimprich F., Feucht M., Reinthaler E., Kunz W.S., Zsurka G., Surges R., Baumgartner T.H., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S.
مصطلحات موضوعية: copy number variant, seizure, genome wide
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37474567; info:eu-repo/semantics/altIdentifier/wos/WOS:001040020600007; volume:14; issue:1; firstpage:1; lastpage:19; numberofpages:19; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11585/957673Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165735871; https://www.nature.com/articles/s41467-023-39539-6Test
الإتاحة: https://doi.org/10.1038/s41467-023-39539-6Test
https://hdl.handle.net/11585/957673Test
https://www.nature.com/articles/s41467-023-39539-6Test -
4دورية أكاديمية
المؤلفون: Ruderfer, DM, Chambert, K, Moran, J, Talkowski, M, Chen, ES, Gigek, C, Gusella, JF, Blackwood, DH, Corvin, A, Gurling, HM, Hultman, CM, Kirov, G, Magnusson, P, O'Donovan, MC, Owen, MJ, Pato, C, St Clair, D, Sullivan, PF, Purcell, SM, Sklar, P, Ernst, C
المصدر: European journal of human genetics : EJHG. 21(9):1007-1011
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Montanucci, L, Lewis-Smith, D, Collins, RL, Niestroj, LM, Parthasarathy, S, Xian, J, Ganesan, S, Macnee, M, Brünger, T, Thomas, RH, Talkowski, M, Motelow, JE, Povysil, G, Dhindsa, RS, Stanley, KE, Allen, AS, Goldstein, DB, Feng, YCA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Cusick, C, Singh, T, Heyne, H, Byrnes, AE, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Gupta, N, Neale, BM, Berkovic, SF, Lerche, H, Lowenstein, DH, Cavalleri, GL, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Hakonarson, H, Heinzen, EL, Helbig, I, Kwan, P, Marson, AG, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Stewart, R, Weckhuysen, S, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, Krause, R, May, P, McKenna, K, Regan, BM, Bennett, CA, Leech, SL, Leu, C, O’Brien, TJ, Todaro, M, Stamberger, H, Depondti, C, Andrade, DM, Ali, QZ, Sadoway, TR, Krestel, H, Schaller, A, Papacostas, SS, Kousiappa, I, Tanteles, GA, Yiolanda, C, Šterbová, K, Vlcková, M, Sedlácková, L, Laššuthová, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Neubauer, BA, Zimprich, F, Feucht, M, Reinthaler, E, Kunz, WS, Zsurka, G, Surges, R, Baumgartner, TH, Von Wrede, R, Pendziwiat, M, Muhle, H, Rademacher, A, Van Baalen, A, Von Spiczak, S
المصدر: Nature Communications , 14 , Article 4392. (2023)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10177097/1/s41467-023-39539-6.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10177097Test/
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6دورية أكاديمية
المؤلفون: Kaivola, K, Chia, R, Ding, J, Rasheed, M, Fujita, M, Menon, V, Walton, RL, Collins, RL, Billingsley, K, Brand, H, Talkowski, M, Zhao, X, Dewan, R, Stark, A, Ray, A, Solaiman, S, Alvarez Jerez, P, Malik, L, Dawson, TM, Rosenthal, LS, Albert, MS, Pletnikova, O, Troncoso, JC, Masellis, M, Keith, J, Black, SE, Ferrucci, L, Resnick, SM, Tanaka, T, Soltis, AR, Viollet, C, Sukumar, G, Alba, C, Lott, N, McGrath Martinez, E, Tuck, M, Singh, J, Bacikova, D, Zhang, X, Hupalo, DN, Adeleye, A, Wilkerson, MD, Pollard, HB, Dalgard, CL, Gan-Or, Z, Rogaeva, E, Brice, A, Lesage, S, Xiromerisiou, G, Calvo, A, Canosa, A, Chio, A, Logroscino, G, Mora, G, Krüger, R, May, P, Alcolea, D, Clarimon, J, Fortea, J, Gonzalez-Aramburu, I, Infante, J, Lage, C, Lleó, A, Pastor, P, Sanchez-Juan, P, Brett, F, Aarsland, D, Al-Sarraj, S, Attems, J, Gentleman, S, Hardy, JA, Hodges, AK, Love, S, McKeith, IG, Morris, CM, Morris, HR, Palmer, L, Pickering-Brown, S, Ryten, M, Thomas, AJ, Troakes, C, Barrett, MJ, Beach, TG, Bekris, LM, Bennett, DA, Boeve, BF, Dickson, DW, Faber, K, Ferman, T, Flanagan, ME, Foroud, TM, Ghetti, B, Gibbs, JR, Goate, A, Goldstein, DS, Graff-Radford, NR, Kaufmann, H, Kukull, WA, Leverenz, JB, Lopez, G
المصدر: Cell Genomics , 3 (6) , Article 100316. (2023)
مصطلحات موضوعية: Lewy body dementia, frontotemporal dementia, amyotrophic lateral sclerosis, structural variant, genome-wide association study, resource, case-control study, non–Alzheimer's dementia
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10172559/1/1-s2.0-S2666979X23000848-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10172559Test/
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7دورية أكاديمية
المؤلفون: Murthy V., Tebaldi T., Yoshida T., Erdin S., Calzonetti T., Vijayvargia R., Tripathi T., Kerschbamer E., Seong I. S., Quattrone A., Talkowski M. E., Gusella J. F., Georgopoulos K., Macdonald M. E., Biagioli M.
المساهمون: Murthy, V., Tebaldi, T., Yoshida, T., Erdin, S., Calzonetti, T., Vijayvargia, R., Tripathi, T., Kerschbamer, E., Seong, I. S., Quattrone, A., Talkowski, M. E., Gusella, J. F., Georgopoulos, K., Macdonald, M. E., Biagioli, M.
مصطلحات موضوعية: Allele, Animal, Cell Differentiation, Disease Models, Gene Frequency, Genotype, Huntingtin Protein, Huntington Disease, Mice, Mutation, Nerve Tissue Protein, Phenotype
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30897080; info:eu-repo/semantics/altIdentifier/wos/WOS:000462994900006; volume:15; issue:3; firstpage:e100776501; lastpage:e100776528; numberofpages:28; journal:PLOS GENETICS; http://hdl.handle.net/11572/288699Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85064186153; https://journals.plos.org/plosgenetics/article/metrics?id=10.1371/journal.pgen.1007765Test
الإتاحة: https://doi.org/10.1371/journal.pgen.1007765Test
http://hdl.handle.net/11572/288699Test
https://journals.plos.org/plosgenetics/article/metrics?id=10.1371/journal.pgen.1007765Test -
8دورية أكاديمية
المؤلفون: Shanta, O., Noor, A., Sebat, J., Chaisson, M., Sanders, A., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E., Rodriguez, O., Guo, L., Collins, R., Fan, X., Wen, J., Handsaker, R., Fairley, S., Kronenberg, Z., Kong, X., Hormozdiari, F., Lee, D., Wenger, A., Hastie, A., Antaki, D., Anantharaman, T., Audano, P., Brand, H., Cantsilieris, S., Cao, H., Cerveira, E., Chen, C., Chen, X., Chin, C., Chong, Z., Chuang, N., Lambert, C., Church, D., Clarke, L., Farrell, A., Flores, J., Galeey, T., Gujral, M., Guryev, V., Heaton, W., Korlach, J., Kumar, S., Kwon, J., Lam, E., Lee, J., Lee, W., Lee, S., Li, S., Marks, P., Viaud-Martinez, K., Meiers, S., Munson, K., Navarro, F., Nelson, B., Nodzak, C., Kyriazopoulou-Panagiotopoulou, S., Pang, A., Rosanio, G., Ryan, M., Stuetz, A., Spierings, D., Ward, A., Welch, A., Xiao, M., Xu, W., Zhang, C., Zhu, Q., Zheng-Bradley, X., Lowy, E., Yakneen, S., McCarroll, S., Jun, G., Ding, L., Koh, C., Flicek, P., Chen, K., Gerstein, M., Kwok, P., Lansdorp, P., Marth, G., Shi, X., Bashir, A., Ye, K., Devine, S., Talkowski, M., Mills, R., Marschall, T., Korbel, J., Eichler, E., Lee, C.
المساهمون: HGSVC
المصدر: BMC Genomics
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-0006-8E73-9Test; http://hdl.handle.net/21.11116/0000-0006-8E75-7Test
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9
المؤلفون: Redin, Claire, Brand, Harrison, Collins, Ryan, Hanscom, Carrie, Vamsee, Pillalamarri, Kammin, Tammy, Mitchell, E., Hodge, J.C., Schilit, S., Curall, B.B., Pereira, S., Seabra, C., Stone, M., Lawless, W., Lucente, D., Antolik, C., Hochstenbach, R., Renkens, I., Brilstra, E., Vergult, S., Menten, B., Janssens, S., Callewaert, B., D’heedene, A., D’hooghe, M, Roelens, F., van de Kamp, J., Nieuwint, A., Poddighe, P.J, van Ravenswaaij-Arts, C., Rump, P., van Essen, T., Freixo, J., David, Dezső, Liao, E.C., Leew, N. de, Brunner, H.G., Kloosterman, W., Thorland, E.C., Morton, C.C., Gusella, J.F., Talkowski, M E.
المساهمون: Repositório Científico do Instituto Nacional de Saúde
مصطلحات موضوعية: Doenças Genéticas, Doenças Genómicas, Balanced Chromosomal Abnormalities, Cytogenetic Abnormalities, Congenital Anomalies
وصف الملف: application/pdf
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10دورية أكاديمية
المؤلفون: Chaisson, M., Sanders, A., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E., Rodriguez, O., Guo, L., Collins, R., Fan, X., Wen, J., Handsaker, R., Fairley, S., Kronenberg, Z., Kong, X., Hormozdiari, F., Lee, D., Wenger, A., Hastie, A., Antaki, D., Anantharaman, T., Audano, P., Brand, H., Cantsilieris, S., Cao, H., Cerveira, E., Chen, C., Chen, X., Chin, C., Chong, Z., Chuang, N., Lambert, C., Church, D., Clarke, L., Farrell, A., Flores, J., Galeev, T., Gorkin, D., Gujral, M., Guryev, V., Heaton, W., Korlach, J., Kumar, S., Kwon, J., Lam, E., Lee, J., Lee, W., Lee, S., Li, S., Marks, P., Viaud-Martinez, K., Meiers, S., Munson, K., Navarro, F., Nelson, B., Nodzak, C., Noor, A., Kyriazopoulou-Panagiotopoulou, S., Pang, A., Qiu, Y., Rosanio, G., Ryan, M., Stuetz, A., Spierings, D., Ward, A., Welch, A., Xiao, M., Xu, W., Zhang, C., Zhu, Q., Zheng-Bradley, X., Lowy, E., Yakneen, S., McCarroll, S., Jun, G., Ding, L., Koh, C., Ren, B., Flicek, P., Chen, K., Gerstein, M., Kwok, P., Lansdorp, P., Marth, G., Sebat, J., Shi, X., Bashir, A., Ye, K., Devine, S., Talkowski, M., Mills, R., Marschall, T., Korbel, J., Eichler, E., Lee, C.
المصدر: Nature Communications
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-0003-865E-DTest; http://hdl.handle.net/21.11116/0000-0003-8660-9Test
النص الكامل