학술논문

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'학술논문' 에서 검색결과 252건 | 목록 1~10
Academic Journal
Pagnamenta, Alistair T.Camps, CarmeGiacopuzzi, EdoardoTaylor, John M.Hashim, MonaCalpena, EduardoKaisaki, Pamela J.Hashimoto, AkikoYu, JingSanders, EdwardSchwessinger, RonHughes, Jim R.Lunter, GertonDreau, HeleneFerla, MatteoLange, LukasKesim, YesimRagoussis, VassilisVavoulis, Dimitrios V.Allroggen, HolgerAnsorge, OlafBabbs, ChristianBanka, SiddharthBaéos-Piéero, BenitoBeeson, DavidBen-Ami, TalBennett, David L.Bento, CelesteBlair, EdwardBrasch-Andersen, CharlotteBull, Katherine R.Cario, HolgerCilliers, DeirdreConti, ValerioDavies, E. GrahamDhalla, FatimaDacal, Beatriz DiezDong, YinDunford, James E.Guerrini, RenzoHarris, Adrian L.Hartley, JaneHollander, GeorgJavaid, KassimKane, MaureenKelly, DeirdreKelly, DominicKnight, Samantha J. L.Kreins, Alexandra Y.Kvikstad, Erika M.Langman, Craig B.Lester, TracyLines, Kate E.Lord, Simon R.Lu, XinMansour, SaharManzur, AdnanMaroofian, RezaMarsden, BrianMason, JoanneMcGowan, Simon J.Mei, DavideMlcochova, HanaMurakami, YoshikoNémeth, Andrea H.Okoli, StevenOrmondroyd, ElizabethOusager, Lilian BommePalace, JacquelinePatel, Smita Y.Pentony, Melissa M.Pugh, ChrisRad, AboulfazlRamesh, ArchanaRiva, Simone G.Roberts, IreneRoy, NoémiSalminen, OutiSchilling, Kyleen D.Scott, CarolineSen, ArjuneSmith, ConradStevenson, MarkThakker, Rajesh V.Twigg, Stephen R. F.Uhlig, Holm H.van Wijk, RichardVona, BarbaraWall, StevenWang, JingWatkins, HughZak, JaroslavSchuh, Anna H.Kini, UshaWilkie, Andrew O. M.Popitsch, NikoTaylor, Jenny C.
Genome Medicine. November 9, 2023, Vol. 15 Issue 1
Conference
2016 IEEE Symposium on VLSI Technology VLSI Technology, 2016 IEEE Symposium on. :1-2 Jun, 2016
Kesim Y; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Ceroni F; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.; Damián A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Blanco-Kelly F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Williamson K; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK.; Paquis-Flucklinger V; Department of Medical Genetics, Nice Teaching Hospital, Nice, France.; Bax DA; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Plaisancié J; INSERM U1214, ToNIC, Université Toulouse III, Toulouse, France.; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, CHU Toulouse, Toulouse, France.; Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Chamlal M; Department of Pediatrics, RAZI-CLINIC Hospital, Tangier, Morocco.; Cortón M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Chassaing N; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, CHU Toulouse, Toulouse, France.; Calvas P; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, CHU Toulouse, Toulouse, France.; Ragge NK; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK. nragge@brookes.ac.uk.; Department of Clinical Genetics, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Foundation Trust, Birmingham, UK. nragge@brookes.ac.uk.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE
Academic Journal
Montanucci, L.Lal, D.Leu, C.Busch, R.M.Lal, D.Leu, C.Lal, D.Lewis-Smith, D.Thomas, R.H.Lewis-Smith, D.Parthasarathy, S.Xian, J.Ganesan, S.Goldberg, E.Helbig, K.L.Cosico, M.Vaidiswaran, P.Fitch, E.Helbig, I.Helbig, I.Collins, R.L.Talkowski, M.Niestroj, L.-M.Macnee, M.Brünger, T.Dlugos, D.J.Ellis, C.A.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.Neale, B.M.Jehi, L.Najm, I.M.Ferguson, L.Khoury, J.Motelow, J.E.Povysil, G.Dhindsa, R.S.Stanley, K.E.Goldstein, D.B.Heinzen, E.L.Kamalakaran, S.Allen, A.S.Gupta, N.Berkovic, S.F.Scheffer, I.E.Regan, B.M.Bennett, C.A.Leech, S.L.Lerche, H.Weber, Y.G.Wolking, S.Becker, F.Lauxmann, S.Bosselmann, C.Kegele, J.Hengsbach, C.Rau, S.Lowenstein, D.H.Freyer, C.McKenna, K.Hegde, M.Cavalleri, G.L.Delanty, N.El-Naggar, H.Widdess-Walsh, P.Doherty, C.P.Shukralla, A.Cossette, P.Cotsapas, C.Krestel, H.De Jonghe, P.Weckhuysen, S.Stamberger, H.Dixon-Salazar, T.Guerrini, R.Parrini, E.Mei, D.Vetro, A.Bianchini, C.Montomoli, M.Doccini, V.Barba, C.Hakonarson, H.Helbig, I.Buono, R.J.Dlugos, D.J.Kwan, P.O’Brien, T.J.Todaro, M.Kwan, P.Petrovski, S.Marson, A.G.Sisodiya, S.M.Schneider, N.Balestrini, S.Zagaglia, S.Braatz, V.Stewart, R.Depondt, C.Depondti, C.Striano, P.Zara, F.Iacomino, M.Riva, A.Madia, F.Vari, M.S.Salpietro, V.Scala, M.Mancardi, M.M.Lino, N.Amadori, E.Giacomini, T.Krause, R.May, P.Andrade, D.M.Ali, Q.Z.Sadoway, T.R.Schaller, A.Papacostas, S.S.Kousiappa, I.Yiolanda, C.Tanteles, G.A.Šterbová, K.Vlcková, M.Sedlácková, L.Laššuthová, P.Klein, K.M.Rosenow, F.Reif, P.S.Knake, S.Neubauer, B.A.Feucht, M.Zimprich, F.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.Blatt, I.Kanaan, M.Canavati, C.Kurlemann, G.Müller-Schlüter, K.Kluger, G.Häusler, M.Lemke, J.R.Krey, I.Steinhoff, B.J.Schulze-Bonhage, A.Schubert-Bast, S.Borggräfe, I.Schankin, C.J.Schreiber, H.Mayer, T.Korinthenberg, R.Brockmann, K.Wolff, M.Kurlemann, G.Dennig, D.Madeleyn, R.Kälviäinen, 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.Baker, M.D.Fonferko-Shadrach, B.Powell, R.H.W.Lawthom, C.Anderson, J.Johnson, M.R.Auce, P.Sills, G.J.Baum, L.W.Sham, P.C.Cherny, S.S.Lui, C.H.T.Barišic, N.Canafoglia, L.Franceschetti, S.Castellotti, B.Granata, T.Ragona, F.Bisulli, F.Licchetta, L.Minardi, R.Tinuper, P.Muccioli, L.Mostacci, B.Pippucci, T.Gambardella, A.Labate, A.Annesi, G.Manna, L.Gagliardi, M.Hirose, S.Ishii, A.Suzuki, T.Yamakawa, K.Inoue, Y.Beydoun, A.Nasreddine, W.Khoueiry-Zgheib, N.Tumiene, B.Utkus, A.Sadleir, L.G.King, C.Caglayan, S.H.Gundogdu-Eken, A.Arslan, M.Yapici, Z.Topaloglu, P.Kara, B.Yis, U.Turkdogan, D.Bebek, N.Baykan, B.Haryanyan, G.Kesim, Y.Ugur-Iseri, S.Salman, B.Yücesan, E.Özkara, Ç.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.Glauser, T.A.Clark, P.O.Ferraro, T.N.Sperling, M.R.Lo, W.Privitera, M.French, J.A.Devinsky, O.Schachter, S.Kuzniecky, R.I.Greenberg, D.A.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.
In: Nature Communications. (Nature Communications, December 2023, 14(1))
Academic Journal
Kesim Y; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Ceroni F; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.; Damián A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Blanco-Kelly F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Williamson K; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK.; Paquis-Flucklinger V; Department of Medical Genetics, Nice Teaching Hospital, Nice, France.; Bax DA; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Plaisancié J; INSERM U1214, ToNIC, Université Toulouse III, Toulouse, France.; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, CHU Toulouse, Toulouse, France.; Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Chamlal M; Department of Pediatrics, RAZI-CLINIC Hospital, Tangier, Morocco.; Cortón M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Chassaing N; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, CHU Toulouse, Toulouse, France.; Calvas P; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, CHU Toulouse, Toulouse, France.; Ragge NK; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK. nragge@brookes.ac.uk.; Department of Clinical Genetics, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Foundation Trust, Birmingham, UK. nragge@brookes.ac.uk.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Susgun S; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.; Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey.; Department of Medical Biology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey.; Kesim Y; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.; Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey.; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brooks University, Oxford, UK.; Khalilov D; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Sirin NG; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Gezegen H; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Salman B; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.; Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey.; Yucesan E; Department of Neurogenetics, Institute of Neurological Sciences, Istanbul University-Cerrahpasa, Istanbul, Turkey.; Gokcay G; Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Korbeyli HK; Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Balci MC; Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Iseri SAU; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey. sibel.ugur@istanbul.edu.tr.; Baykan B; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Bebek N; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE
Academic Journal
Stevelink, R.Kasteleijn-Nolst Trenite, D.Koeleman, B.P.C.Lindhout, D.Sonsma, A.C.M.Campbell, C.Cavalleri, G.L.Delanty, N.El-Naggar, H.Lacey, A.Widdess-Walsh, P.Doherty, C.P.Chen, S.Churchhouse, C.Daly, M.J.Feng, Y.-C.A.Howrigan, D.P.Kurki, M.I.Neale, B.M.Palotie, A.Zhou, W.Gupta, N.Heyne, H.O.Abou-Khalil, B.Haas, K.F.Taneja, R.S.Adesoji, O.M.Nothnagel, M.Nürnberg, P.Sander, T.Afawi, Z.Blatt, I.Korczyn, A.D.Amadori, E.Balagura, G.Riva, A.Scala, M.Scudieri, P.Striano, P.Zara, F.Iacomino, M.Madia, F.Anderson, A.Kwan, P.O’Brien, T.J.Petrovski, S.Tan, K.M.Todaro, M.Anderson, J.Andrade, D.M.Zulfiqar Ali, Q.Annesi, G.Auce, P.Avbersek, A.Balestrini, S.Braatz, V.Catarino, C.B.Chinthapalli, K.Jamnadas-Khoda, J.Kasperavičiūte, D.Leu, C.Sander, J.W.Sisodiya, S.M.Zagaglia, S.Bahlo, M.Oliver, K.L.Baker, M.D.Fonferko-Shadrach, B.Pickrell, W.O.Barba, C.Bianchini, C.Doccini, V.Guerrini, R.Mei, D.Montomoli, M.Parrini, E.Vetro, A.Barboza, K.Bartolomei, F.Bast, T.Steinhoff, B.J.Baum, L.Cherny, S.S.Sham, P.Baumgartner, T.Elger, C.E.Hallmann, K.Kunz, W.S.Surges, R.von Wrede, R.Zsurka, G.Baykan, B.Bebek, N.Kesim, Y.Becker, A.J.Schoch, S.Becker, F.Berghuis, B.Beydoun, A.Nasreddine, W.Bisulli, F.Di Vito, L.Ferri, L.Giangregorio, T.Licchetta, L.Minardi, R.Mostacci, B.Stipa, C.Tinuper, P.Muccioli, L.Pondrelli, F.Bobbili, D.R.Hassanin, E.Krause, R.Landoulsi, Z.May, P.Borggraefe, I.Bosselmann, C.Hengsbach, C.Kegele, J.Lauxmann, S.Lerche, H.Rau, S.Weber, Y.G.Bradfield, J.P.Buono, R.J.Hakonarson, H.Brockmann, K.Brody, L.C.Pangilinan, F.Ferraro, T.N.Busch, R.M.Lal, D.Ferguson, L.Jehi, L.Najm, I.M.Caglayan, H.Campbell, E.Canafoglia, L.Canavati, C.Kanaan, M.Cascino, G.D.Castellotti, B.Cerrato, F.Cusick, C.Chassoux, F.Cheung, C.-L.Li, G.H.-Y.Chou, I.-J.Hung, P.-C.Lin, K.-L.Chung, S.-K.Rees, M.I.Clark, P.O.Glauser, T.Cole, A.J.McGraw, C.M.Compston, A.Coppola, A.Cosico, M.Dlugos, D.J.Fitzgerald, M.Goldberg, E.Helbig, I.Lewin, N.Lewis-Smith, D.Vaidiswaran, P.Cossette, P.Craig, J.J.Davis, L.K.Hucks, D.de Haan, G.-J.Depondt, C.Derambure, P.Devinsky, O.Ellis, C.A.Eriksson, J.G.Faucon, A.Wu, D.Feucht, M.Fortunato, F.Gambardella, A.Franceschetti, S.Franke, A.Pendziwiat, M.French, J.A.Freri, E.Granata, T.Ragona, F.Gagliardi, M.Geller, E.B.Gjerstad, L.Taubøll, E.Goldman, A.Greenberg, D.A.Hegde, M.Kirsch, H.E.Knowlton, R.C.Lowenstein, D.H.Heinzen, E.L.Muhle, H.Rademacher, A.Stephani, U.van Baalen, A.Hirose, S.Hirsch, E.Hjalgrim, H.Møller, R.S.Imbach, L.L.Inoue, Y.Ishii, A.Johnson, M.R.Kälviäinen, R.Kantanen, A.-M.Saarela, A.Timonen, O.Kamatani, Y.Kanai, M.Okada, Y.Kara, B.Kariuki, S.M.Newton, C.R.J.C.Kato, M.Khoueiry-Zgheib, N.King, C.Sadleir, L.G.Klein, K.M.Knake, S.Reif, P.S.Rosenow, F.Strzelczyk, A.Zahnert, F.Krestel, H.Schubert-Bast, S.von Brauchitsch, S.Kluger, G.Koupparis, A.Kousiappa, I.Papacostas, S.S.Tanteles, G.A.Krenn, M.Zimprich, F.Schankin, C.J.Krey, I.Lemke, J.R.Kurlemann, G.Kuzniecky, R.Labate, A.Lau, Y.-L.Yang, W.Lehesjoki, A.-E.Lesca, G.Thomas, R.H.Li, Q.S.Linnankivi, T.Lopes-Cendes, I.Lui, C.H.T.Magnusson, S.Stefansson, H.Stefansson, K.Unnsteinsdóttir, U.Marson, A.G.Mirza, N.Mills, J.L.Molloy, A.M.Müller-Schlüter, K.Neubauer, B.Nöthen, M.M.Ólafsson, E.Özkara, C.Pato, C.N.Pato, M.T.Powell, R.H.W.Pinsky, R.Poduri, A.Sheidley, B.R.Pippucci, T.Privitera, M.Radtke, R.Rhelms, S.Ryvlin, P.Schmitz, B.Scattergood, T.Schachter, S.C.Scheffer, I.E.Schulze-Bonhage, A.Shih, J.J.Sills, G.J.Smith, M.C.Smith, P.E.Speed, D.Sperling, M.R.Stewart, W.C.Stroink, H.Suzuki, T.Yamakawa, K.Thio, L.L.Weisenberg, J.Thomas, G.N.Topaloğlu, P.Yapıcı, Z.Tozzi, R.Tsai, M.-H.Tumiene, B.Utkus, A.Turkdogan, D.Valton, L.Vining, E.P.G.Visscher, F.Wagner, R.G.Wolking, S.Weckhuysen, S.Weller, M.Wolff, M.Yücesan, E.Bennett, C.A.Berkovic, S.F.Leech, S.L.Regan, B.M.
In: Nature Genetics. (Nature Genetics, September 2023, 55(9):1471-1482)
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