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1Academic Journal
المصدر: The Lancet regional health - Europe., Amsterdam : Elsevier Ltd, 2024, vol. 37, art. no. 100783, p. [1-7]. ; eISSN 2666-7762
مصطلحات موضوعية: care pathways, European reference networks, health determinants, healthcare policy, national frameworks, rare disease, universal health coverage
وصف الملف: application/pdf
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المؤلفون: Berkovic, Samuel F., Neale, Benjamin M., Zsurka, Gábor, Zizovic, Milena, Zimprich, Fritz, Zara, Federico, Zahnert, Felix, Zagaglia, Sara, Yücesan, Emrah, Yolken, Robert, Yis, Uluc, Yapıcı, Zuhal, Yamakawa, Kazuhiro, Wu, David, von Wrede, Randi, Wong, Isaac, Wolking, Stefan, Wolff, Markus, Wolf, Steven M., Wiebe, Samuel, Widdess-Walsh, Peter, Weckhuysen, Sarah, Weber, Yvonne G., Watts, Nick, Wagner, Ryan G., von Spiczak, Sarah, von Brauchitsch, Sophie, Vlčková, Markéta, Vetro, Annalisa, Vari, Maria Stella, van Baalen, Andreas, Valton, Luc, Vaidiswaran, Priya, Utkus, Algirdas, Uğur-İşeri, Sibel, Turkdogan, Dilsad, Tumiene, Birute, Tsai, Meng-Han, Topaloglu, Pınar, Todaro, Marian, Tinuper, Paolo, Timpson, Nicholas John, Timonen, Oskari, Tanteles, George A., Taneja, Randip S., Talkowski, Michael E., Talarico, Mariagrazia, Suzuki, Toshimitsu, Surges, Rainer, Strzelczyk, Adam, Striano, Pasquale, Stipa, Carlotta, Stewart, William C., Štěrbová, Katalin, Stephani, Ulrich, Steinhoff, Bernhard J., Stamberger, Hannah, Sperling, Michael R., Sparks, Kathryn R., Spalletta, Gianfranco, Solomonson, Matthew, Smoller, Jordan W., Sisodiya, Sanjay M., Sills, Graeme J., Siena, S. Anthony, Shiedley, Beth R., Sham, Pak C., Shain, Catherine, Sedláčková, Lucie, Scudieri, Paolo, Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schneider, Natascha, Scheffer, Ingrid E., Schankin, Christoph J., Schaller, André, Schachter, Steven, Scala, Marcello, Sammarra, Ilaria, Salpietro, Vincenzo, Salmon, Andrea, Salman, Barış, Sadleir, Lynette G., Saarela, Anni, Ryvlin, Philippe, Rosenow, Felix, Rojas, Enrique, Riva, Antonella, Ring, Susan M., Rheims, Sylvain, Reinthaler, Eva, Reif, Andreas, Regan, Brigid M., Rees, Mark I., Raynes, Hillary R., Rau, Sarah, Ramirez-Hamouz, Byron, Ragona, Francesca, Rademacher, Annika, Privitera, Michael, Powell, Robert H. W., Posthuma, Danielle, Pondrelli, Federica, Poduri, Annapurna, Piras, Federica, Piras, Fabrizio, Pippucci, Tommaso, Pinto, Dalila, Pinsky, Rebecca, Pickrell, William O., Petrovski, Slavé, Pennell, Page B., Pendziwiat, Manuela, Pato, Michele, Pato, Carlos, Parrini, Elena, Papacostas, Savvas S., Palotie, Aarno, Özkara, Çiğdem, Owusu-Agyei, Seth, O’Brien, Terence J., Novod, Sam, Northstone, Kate, Noebels, Jeffrey L., Newton, Charles R. J. C., Neubauer, Bernd A., Neaves, Samuel, Nasreddine, Wassim, Najm, Imad M., Müller-Schlüter, Karen, Muhle, Hiltrud, Muccioli, Lorenzo, Mostacci, Barbara, Montomoli, Martino, Minardi, Raffaella, Millichap, John J., Michel, Véronique, Mei, Davide, Meador, Kimford J., McQuillan, Andrew, McIntosh, Andrew, McGraw, Christopher M., McGoldrick, Patricia, McCarroll, Steven M., McArdle, Wendy, Mayer, Thomas, May, Patrick, Matthews, Abigail G., Marson, Anthony G., Marques, Paula, Marcuse, Lara, Maillard, Louis, Magri, Stefania, Madia, Francesca, Madeleyn, Rene, Macedo-Souza, Lucia Inês, Lui, Colin H. T., Lubbers, Laura, Lowther, Chelsea, Lowenstein, Daniel H., Lo, Warren, Linnankivi, Tarja, Lin, Kuang-Lin, Lin, Chih-Hsiang, Licchetta, Laura, Liao, Calwing, Li, Gloria Hoi-Yee, Lewis-Smith, David, Lewin, Naomi, Leu, Costin, Lesca, Gaetan, Lerche, Holger, Lemke, Johannes R., Lehesjoki, Anna-Elina, Leech, Stephanie L., Lawthom, Charlotte, Lauxmann, Stephan, Laššuthová, Petra, Lal, Dennis, Lacey, Austin, Labate, Angelo, Vega-Talbott, Maite La, Kwan, Patrick, Kuzniecky, Ruben I., Kurlemann, Gerhard, Kunz, Wolfram S., Krey, Ilona, Krestel, Heinz, Krenn, Martin, Krause, Roland, Kousiappa, Ioanna, Koupparis, Andreas, Korinthenberg, Rudolf, Korczyn, Amos D., Kok, Fernando, Knake, Susanne, Kluger, Gerhard, Klein, Karl Martin, King, Chontelle, Khoury, Jean, Khoueiry-Zgheib, Nathalie, Kesim, Yeşim, Kegele, Josua, Kariuki, Symon M., Kara, Bulent, Kanaan, Moien, Kälviäinen, Reetta, Johnstone, Mandy, Johnson, Michael R., Jehi, Lara, Ishii, Atsushi, Inuzuka, Luciana Midori, Inoue, Yushi, Iacomino, Michele, Hung, Po-Chen, Hucks, Donald, Howrigan, Daniel P., Hoeper, Olivia, Ho, Chen-Jui, Hirsch, Edouard, Hirose, Shinichi, Heyne, Henrike, Hengsbach, Christian, Helbig, Ingo, Heinzen, Erin L., Hegde, Manu, Häusler, Martin, Haryanyan, Garen, Hakonarson, Hakon, Haas, Kevin, Gupta, Namrata, Gundogdu-Eken, Aslı, Guerrini, Renzo, Greenberg, David A., Grant, Riley, Granata, Tiziana, Goldstein, David B., Goldman, Alica, Goldberg, Ethan, Glauser, Tracy A., Gili, Tommaso, Giangregorio, Tania, Gauthier, Laura, Gambardella, Antonio, Gagliardi, Monica, Gabriel, Stacey, Fu, Jack M., Freri, Elena, French, Jacqueline A., Franceschetti, Silvana, Fortunato, Francesco, Fonferko-Shadrach, Beata, Fitzgerald, Mark, Fields, Madeline C., Feucht, Martha, Ferri, Lorenzo, Silva, Izabela Ferreira Da, Ferraro, Thomas N., Ferguson, Lisa, Feng, Yen-Chen Anne, Faucon, Annika, Evans, Meghan, Epstein, Leon, Ellis, Colin A., El-Naggar, Hany, Doherty, Colin P., Doccini, Viola, Dlugos, Dennis J., Dickerson, Faith, Vito, Lidia Di, Devinsky, Orrin, Derambure, Philippe, Depondt, Chantal, Dennig, Dieter, Delanty, Norman, Jonghe, Peter De, Davis, Lea K., Daly, Mark J., Cusick, Caroline, Cotsapas, Chris, Cossette, Patrick, Cosico, Mahgenn, Cole, Andrew J., Clark, Peggy O., Ciullo, Valentina, Churchhouse, Claire, Chung, Seo-Kyung, Chou, I-Jun, Cheung, Ching-Lung, Cherny, Stacey S., Cherian, Christina, Chassoux, Francine, Cerrato, Felecia, Cavalleri, Gianpiero L., Castellotti, Barbara, Canavati, Christina, Canafoglia, Laura, Caglayan, S. Hande, Busch, Robyn M., Buono, Russell J., Brockmann, Knut, Brand, Harrison, Braatz, Vera, Bosselmann, Christian, Borggräfe, Ingo, Blatt, Ilan, Blackwood, Douglas, Bisulli, Francesca, Bianchini, Claudia, Beydoun, Ahmad, Bennett, Caitlin A., Becker, Felicitas, Bebek, Nerses, Baykan, Betül, Baumgartner, Tobias H., Baum, Larry W., Bass, Nick, Bartolomei, Fabrice, Barboza, Karen, Barba, Carmen, Banks, Eric, Balestrini, Simona, Balagura, Ganna, Baker, Mark D., Bahlo, Melanie, Auce, Pauls, Arslan, Mutluay, Annesi, Grazia, Andrade, Danielle M., Anderson, Joe, Anderson, Alison, Amadori, Elisabetta, Ali, Quratulain Zulfiqar, Afawi, Zaid, Abou-Khalil, Bassel W., Chen, Siwei
المصدر: Nature Neuroscience. 27(10):1864-1879
وصف الملف: print
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3Academic Journal
المؤلفون: Stevelink, Remi, Campbell, Ciarán, Chen, Siwei, Abou-Khalil, Bassel, Adesoji, Oluyomi M., Afawi, Zaid, Amadori, Elisabetta, Anderson, Alison, Anderson, Joseph, Andrade, Danielle M., Annesi, Grazia, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Baker, Mark D., Balagura, Ganna, Balestrini, Simona, Barba, Carmen, Barboza, Karen, Bartolomei, Fabrice, Bast, Thomas, Baum, Larry, Baumgartner, Tobias, Baykan, Betül, Bebek, Nerses, Becker, Albert J., Becker, Felicitas, Bennett, Caitlin A., Berghuis, Bianca, Berkovic, Samuel F., Beydoun, Ahmad, Bianchini, Claudia, Bisulli, Francesca, Blatt, Ilan, Bobbili, Dheeraj R., Borggraefe, Ingo, Bosselmann, Christian, Braatz, Vera, Bradfield, Jonathan P., Brockmann, Knut, Brody, Lawrence C., Buono, Russell J., Busch, Robyn M., Caglayan, Hande, Campbell, Ellen, Canafoglia, Laura, Canavati, Christina, Cascino, Gregory D., Castellotti, Barbara, Catarino, Claudia B., Cavalleri, Gianpiero L., Cerrato, Felecia, Chassoux, Francine, Cherny, Stacey S., Cheung, Ching-Lung, Chinthapalli, Krishna, Chou, I-Jun, Chung, Seo-Kyung, Churchhouse, Claire, Clark, Peggy O., Cole, Andrew J., Compston, Alastair, Coppola, Antonietta, Cosico, Mahgenn, Cossette, Patrick, Craig, John J., Cusick, Caroline, Daly, Mark J., Davis, Lea K., de Haan, Gerrit-Jan, Delanty, Norman, Depondt, Chantal, Derambure, Philippe, Devinsky, Orrin, Di Vito, Lidia, Dlugos, Dennis J., Doccini, Viola, Doherty, Colin P., El-Naggar, Hany, Elger, Christian E., Ellis, Colin A., Eriksson, Johan G., Faucon, Annika, Feng, Yen-Chen A., Ferguson, Lisa, Ferraro, Thomas N., Ferri, Lorenzo, Feucht, Martha, Fitzgerald, Mark, Fonferko-Shadrach, Beata, Fortunato, Francesco, Franceschetti, Silvana, Franke, Andre, French, Jacqueline A., Freri, Elena, Gagliardi, Monica, Gambardella, Antonio, Geller, Eric B., Giangregorio, Tania, Gjerstad, Leif, Glauser, Tracy, Goldberg, Ethan, Goldman, Alicia, Granata, Tiziana, Greenberg, David A., Guerrini, Renzo, Gupta, Namrata, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Hassanin, Emadeldin, Hegde, Manu, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Heyne, Henrike O., Hirose, Shinichi, Hirsch, Edouard, Hjalgrim, Helle, Howrigan, Daniel P., Hucks, Donald, Hung, Po-Cheng, Iacomino, Michele, Imbach, Lukas L., Inoue, Yushi, Ishii, Atsushi, Jamnadas-Khoda, Jennifer, Jehi, Lara, Johnson, Michael R., Kälviäinen, Reetta, Kamatani, Yoichiro, Kanaan, Moien, Kanai, Masahiro, Kantanen, Anne-Mari, Kara, Bülent, Kariuki, Symon M., Kasperavi'i'te, Dalia, Kasteleijn-Nolst Trenite, Dorothee, Kato, Mitsuhiro, Kegele, Josua, Kesim, Yes'im, Khoueiry-Zgheib, Nathalie, King, Chontelle, Kirsch, Heidi E., Klein, Karl M., Kluger, Gerhard, Knake, Susanne, Knowlton, Robert C., Koeleman, Bobby P. C., Korczyn, Amos D., Koupparis, Andreas, Kousiappa, Ioanna, Krause, Roland, Krenn, Martin, Krestel, Heinz, Krey, Ilona, Kunz, Wolfram S., Kurki, Mitja I., Kurlemann, Gerhard, Kuzniecky, Ruben, Kwan, Patrick, Labate, Angelo, Lacey, Austin, Lal, Dennis, Landoulsi, Zied, Lau, Yu-Lung, Lauxmann, Stephen, Leech, Stephanie L., Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Lesca, Gaetan, Leu, Costin, Lewin, Naomi, Lewis-Smith, David, Li, Gloria H.-Y., Li, Qingqin S., Licchetta, Laura, Lin, Kuang-Lin, Lindhout, Dick, Linnankivi, Tarja, Lopes-Cendes, Iscia, Lowenstein, Daniel H., Lui, Colin H. T., Madia, Francesca, Magnusson, Sigurdur, Marson, Anthony G., May, Patrick, McGraw, Christopher M., Mei, Davide, Mills, James L., Minardi, Raffaella, Mirza, Nasir, Møller, Rikke S., Molloy, Anne M., Montomoli, Martino, Mostacci, Barbara, Muccioli, Lorenzo, Muhle, Hiltrud, Müller-Schlüter, Karen, Najm, Imad M., Nasreddine, Wassim, Neale, Benjamin M., Neubauer, Bernd, Newton, Charles R. J. C., Nöthen, Markus M., Nothnagel, Michael, Nürnberg, Peter, O'Brien, Terence J., Okada, Yukinori, Ólafsson, Elías, Oliver, Karen L., Özkara, C'ig'dem, Palotie, Aarno, Pangilinan, Faith, Papacostas, Savvas S., Parrini, Elena, Pato, Carlos N., Pato, Michele T., Pendziwiat, Manuela, Petrovski, Slavé, Pickrell, William O., Pinsky, Rebecca, Pippucci, Tommaso, Poduri, Annapurna, Pondrelli, Federica, Powell, Rob H. W., Privitera, Michael, Rademacher, Annika, Radtke, Rodney, Ragona, Francesca, Rau, Sarah, Rees, Mark I., Regan, Brigid M., Reif, Philipp S., Rhelms, Sylvain, Riva, Antonella, Rosenow, Felix, Ryvlin, Philippe, Saarela, Anni, Sadleir, Lynette G., Sander, Josemir W., Sander, Thomas, Scala, Marcello, Scattergood, Theresa, Schachter, Steven C., Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schoch, Susanne, Schubert-Bast, Susanne, Schulze-Bonhage, Andreas, Scudieri, Paolo, Sham, Pak, Sheidley, Beth R., Shih, Jerry J., Sills, Graeme J., Sisodiya, Sanjay M., Smith, Michael C., Smith, Philip E., Sonsma, Anja C. M., Speed, Doug, Sperling, Michael R., Stefansson, Hreinn, Stefansson, Kári, Steinhoff, Bernhard J., Stephani, Ulrich, Stewart, William C., Stipa, Carlotta, Striano, Pasquale, Stroink, Hans, Strzelczyk, Adam, Surges, Rainer, Suzuki, Toshimitsu, Tan, K. Meng, Taneja, R. S., Tanteles, George A., Taubøll, Erik, Thio, Liu Lin, Thomas, G. Neil, Thomas, Rhys H., Timonen, Oskari, Tinuper, Paolo, Todaro, Marian, Topalo'lu, P'nar, Tozzi, Rossana, Tsai, Meng-Han, Tumiene, Birute, Turkdogan, Dilsad, Unnsteinsdóttir, Unnur, Utkus, Algirdas, Vaidiswaran, Priya, Valton, Luc, van Baalen, Andreas, Vetro, Annalisa, Vining, Eileen P. G., Visscher, Frank, von Brauchitsch, Sophie, von Wrede, Randi, Wagner, Ryan G., Weber, Yvonne G., Weckhuysen, Sarah, Weisenberg, Judith, Weller, Michael, Widdess-Walsh, Peter, Wolff, Markus, Wolking, Stefan, Wu, David, Yamakawa, Kazuhiro, Yang, Wanling, Yap'c', Zuhal, Yücesan, Emrah, Zagaglia, Sara, Zahnert, Felix, Zara, Federico, Zhou, Wei, Zimprich, Fritz, Zsurka, Gábor, Zulfiqar Ali, Quratulain
وصف الملف: application/pdf
Relation: https://orca.cardiff.ac.uk/id/eprint/168241/1/Complex%20Epilepsies.%20Genome%20s41588-023-01485-w.pdf; Stevelink, Remi, Campbell, Ciarán, Chen, Siwei, Abou-Khalil, Bassel, Adesoji, Oluyomi M., Afawi, Zaid, Amadori, Elisabetta, Anderson, Alison, Anderson, Joseph, Andrade, Danielle M., Annesi, Grazia, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Baker, Mark D., Balagura, Ganna, Balestrini, Simona, Barba, Carmen, Barboza, Karen, Bartolomei, Fabrice, Bast, Thomas, Baum, Larry, Baumgartner, Tobias, Baykan, Betül, Bebek, Nerses, Becker, Albert J., Becker, Felicitas, Bennett, Caitlin A., Berghuis, Bianca, Berkovic, Samuel F., Beydoun, Ahmad, Bianchini, Claudia, Bisulli, Francesca, Blatt, Ilan, Bobbili, Dheeraj R., Borggraefe, Ingo, Bosselmann, Christian, Braatz, Vera, Bradfield, Jonathan P., Brockmann, Knut, Brody, Lawrence C., Buono, Russell J., Busch, Robyn M., Caglayan, Hande, Campbell, Ellen, Canafoglia, Laura, Canavati, Christina, Cascino, Gregory D., Castellotti, Barbara, Catarino, Claudia B., Cavalleri, Gianpiero L., Cerrato, Felecia, Chassoux, Francine, Cherny, Stacey S., Cheung, Ching-Lung, Chinthapalli, Krishna, Chou, I-Jun, Chung, Seo-Kyung, Churchhouse, Claire, Clark, Peggy O., Cole, Andrew J., Compston, Alastair, Coppola, Antonietta, Cosico, Mahgenn, Cossette, Patrick, Craig, John J., Cusick, Caroline, Daly, Mark J., Davis, Lea K., de Haan, Gerrit-Jan, Delanty, Norman, Depondt, Chantal, Derambure, Philippe, Devinsky, Orrin, Di Vito, Lidia, Dlugos, Dennis J., Doccini, Viola, Doherty, Colin P., El-Naggar, Hany, Elger, Christian E., Ellis, Colin A., Eriksson, Johan G., Faucon, Annika, Feng, Yen-Chen A., Ferguson, Lisa, Ferraro, Thomas N., Ferri, Lorenzo, Feucht, Martha, Fitzgerald, Mark, Fonferko-Shadrach, Beata, Fortunato, Francesco, Franceschetti, Silvana, Franke, Andre, French, Jacqueline A., Freri, Elena, Gagliardi, Monica, Gambardella, Antonio, Geller, Eric B., Giangregorio, Tania, Gjerstad, Leif, Glauser, Tracy, Goldberg, Ethan, Goldman, Alicia, Granata, Tiziana, Greenberg, David A., Guerrini, Renzo, Gupta, Namrata, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Hassanin, Emadeldin, Hegde, Manu, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Heyne, Henrike O., Hirose, Shinichi, Hirsch, Edouard, Hjalgrim, Helle, Howrigan, Daniel P., Hucks, Donald, Hung, Po-Cheng, Iacomino, Michele, Imbach, Lukas L., Inoue, Yushi, Ishii, Atsushi, Jamnadas-Khoda, Jennifer, Jehi, Lara, Johnson, Michael R., Kälviäinen, Reetta, Kamatani, Yoichiro, Kanaan, Moien, Kanai, Masahiro, Kantanen, Anne-Mari, Kara, Bülent, Kariuki, Symon M., Kasperavi'i'te, Dalia, Kasteleijn-Nolst Trenite, Dorothee, Kato, Mitsuhiro, Kegele, Josua, Kesim, Yes'im, Khoueiry-Zgheib, Nathalie, King, Chontelle, Kirsch, Heidi E., Klein, Karl M., Kluger, Gerhard, Knake, Susanne, Knowlton, Robert C., Koeleman, Bobby P. C., Korczyn, Amos D., Koupparis, Andreas, Kousiappa, Ioanna, Krause, Roland, Krenn, Martin, Krestel, Heinz, Krey, Ilona, Kunz, Wolfram S., Kurki, Mitja I., Kurlemann, Gerhard, Kuzniecky, Ruben, Kwan, Patrick, Labate, Angelo, Lacey, Austin, Lal, Dennis, Landoulsi, Zied, Lau, Yu-Lung, Lauxmann, Stephen, Leech, Stephanie L., Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Lesca, Gaetan, Leu, Costin, Lewin, Naomi, Lewis-Smith, David, Li, Gloria H.-Y., Li, Qingqin S., Licchetta, Laura, Lin, Kuang-Lin, Lindhout, Dick, Linnankivi, Tarja, Lopes-Cendes, Iscia, Lowenstein, Daniel H., Lui, Colin H. T., Madia, Francesca, Magnusson, Sigurdur, Marson, Anthony G., May, Patrick, McGraw, Christopher M., Mei, Davide, Mills, James L., Minardi, Raffaella, Mirza, Nasir, Møller, Rikke S., Molloy, Anne M., Montomoli, Martino, Mostacci, Barbara, Muccioli, Lorenzo, Muhle, Hiltrud, Müller-Schlüter, Karen, Najm, Imad M., Nasreddine, Wassim, Neale, Benjamin M., Neubauer, Bernd, Newton, Charles R. J. C., Nöthen, Markus M., Nothnagel, Michael, Nürnberg, Peter, O'Brien, Terence J., Okada, Yukinori, Ólafsson, Elías, Oliver, Karen L., Özkara, C'ig'dem, Palotie, Aarno, Pangilinan, Faith, Papacostas, Savvas S., Parrini, Elena, Pato, Carlos N., Pato, Michele T., Pendziwiat, Manuela, Petrovski, Slavé, Pickrell, William O., Pinsky, Rebecca, Pippucci, Tommaso, Poduri, Annapurna, Pondrelli, Federica, Powell, Rob H. W., Privitera, Michael, Rademacher, Annika, Radtke, Rodney, Ragona, Francesca, Rau, Sarah, Rees, Mark I., Regan, Brigid M., Reif, Philipp S., Rhelms, Sylvain, Riva, Antonella, Rosenow, Felix, Ryvlin, Philippe, Saarela, Anni, Sadleir, Lynette G., Sander, Josemir W., Sander, Thomas, Scala, Marcello, Scattergood, Theresa, Schachter, Steven C., Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schoch, Susanne, Schubert-Bast, Susanne, Schulze-Bonhage, Andreas, Scudieri, Paolo, Sham, Pak, Sheidley, Beth R., Shih, Jerry J., Sills, Graeme J., Sisodiya, Sanjay M., Smith, Michael C., Smith, Philip E. https://orca.cardiff.ac.uk/view/cardiffauthors/A031538K.html orcid:0000-0003-4250-2562 orcid:0000-0003-4250-2562, Sonsma, Anja C. M., Speed, Doug, Sperling, Michael R., Stefansson, Hreinn, Stefansson, Kári, Steinhoff, Bernhard J., Stephani, Ulrich, Stewart, William C., Stipa, Carlotta, Striano, Pasquale, Stroink, Hans, Strzelczyk, Adam, Surges, Rainer, Suzuki, Toshimitsu, Tan, K. Meng, Taneja, R. S., Tanteles, George A., Taubøll, Erik, Thio, Liu Lin, Thomas, G. Neil, Thomas, Rhys H. https://orca.cardiff.ac.uk/view/cardiffauthors/A124167S.html orcid:0000-0003-2062-8623 orcid:0000-0003-2062-8623, Timonen, Oskari, Tinuper, Paolo, Todaro, Marian, Topalo'lu, P'nar, Tozzi, Rossana, Tsai, Meng-Han, Tumiene, Birute, Turkdogan, Dilsad, Unnsteinsdóttir, Unnur, Utkus, Algirdas, Vaidiswaran, Priya, Valton, Luc, van Baalen, Andreas, Vetro, Annalisa, Vining, Eileen P. G., Visscher, Frank, von Brauchitsch, Sophie, von Wrede, Randi, Wagner, Ryan G., Weber, Yvonne G., Weckhuysen, Sarah, Weisenberg, Judith, Weller, Michael, Widdess-Walsh, Peter, Wolff, Markus, Wolking, Stefan, Wu, David, Yamakawa, Kazuhiro, Yang, Wanling, Yap'c', Zuhal, Yücesan, Emrah, Zagaglia, Sara, Zahnert, Felix, Zara, Federico, Zhou, Wei, Zimprich, Fritz, Zsurka, Gábor and Zulfiqar Ali, Quratulain 2023. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nature Genetics 55 (9) , pp. 1471-1482. 10.1038/s41588-023-01485-w https://doi.org/10.1038/s41588-023-01485-w file https://orca.cardiff.ac.uk/id/eprint/168241/1/Complex%20Epilepsies.%20Genome%20s41588-023-01485-w.pdf
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4Academic Journal
المؤلفون: Montanucci, Ludovica, Lewis-Smith, David, Collins, Ryan L., Niestroj, Lisa-Marie, Parthasarathy, Shridhar, Xian, Julie, Ganesan, Shiva, Macnee, Marie, Brünger, Tobias, Thomas, Rhys H., Talkowski, Michael, Motelow, Joshua E., Povysil, Gundula, Dhindsa, Ryan S., Stanley, Kate E., Allen, Andrew S., Goldstein, David B., Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea E., Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Gupta, Namrata, Neale, Benjamin M., Berkovic, Samuel F., Lerche, Holger, Lowenstein, Daniel H., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Kwan, Patrick, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Weckhuysen, Sarah, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bennett, Caitlin A., Leech, Stephanie L., Leu, Costin, O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Depondti, Chantal, Andrade, Danielle M., Ali, Quratulain Zulfiqar, Sadoway, Tara R., Krestel, Heinz, Schaller, André, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Yiolanda, Christou, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Neubauer, Bernd A., Zimprich, Friedrich, Feucht, Martha, Reinthaler, Eva, Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Baumgartner, Tobias H., von Wrede, Randi, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Lauxmann, Stephan, Bosselmann, Christian, Kegele, Josua, Hengsbach, Christian, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Schankin, Christoph J., Schubert-Bast, Susanne, Schreiber, Herbert, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Wolff, Markus, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Saarela, Anni, Timonen, Oskari, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rheims, Sylvain, Lesca, Gaetan, Ryvlin, Philippe, Maillard, Louis, Valton, Luc, Derambure, Philippe, Bartolomei, Fabrice, Hirsch, Edouard, Michel, Véronique, Chassoux, Francine, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert H. W., Baker, Mark D., Fonferko-Shadrach, Beata, Lawthom, Charlotte, Anderson, Joe, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Delanty, Norman, Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Widdess-Walsh, Peter, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Zara, Federico, Iacomino, Michele, Riva, Antonella, Madia, Francesca, Vari, Maria Stella, Salpietro, Vincenzo, Scala, Marcello, Mancardi, Maria Margherita, Lino, Nobili, Amadori, Elisa, Giacomini, Thea, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Minardi, Raffaella, Tinuper, Paolo, Muccioli, Lorenzo, Mostacci, Barbara, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Barba, Carmen, Hirose, Shinichi, Ishii, Atsushi, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Nasreddine, Wassim, Khoueiry-Zgheib, Nathalie, Tumienė, Birutė, Utkus, Algirdas, Sadleir, Lynette G., King, Chontelle, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Topaloglu, Pınar, Kara, Bulent, Yis, Uluc, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Tsai, Meng-Han, Ho, Chen-Jui, Lin, Chih-Hsiang, Lin, Kuang-Lin, Chou, I-Jun, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Noebels, Jeffrey L., Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Najm, Imad M., Ferguson, Lisa, Khoury, Jean, Glauser, Tracy A., Clark, Peggy O., Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Greenberg, David A., Ellis, Colin A., Goldberg, Ethan, Helbig, Katherine L., Cosico, Mahgenn, Vaidiswaran, Priya, Fitch, Eryn, Newton, Charles R. J. C., Kariuki, Symon M., Wagner, Ryan G., Owusu-Agyei, Seth, Cole, Andrew J., McGraw, Christopher M., Siena, S. Anthony, Davis, Lea, Hucks, Donald, Faucon, Annika, Wu, David, Abou-Khalil, Bassel W., Haas, Kevin, Taneja, Randip S.
المصدر: Nature communications., Berlin : Nature Portfolio, 2023, vol. 14, iss. 1, art. no. 4392, p. [1-19]. ; eISSN 2041-1723
وصف الملف: application/pdf
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5Academic Journal
المؤلفون: Tumienė, Birutė, del Toro Riera, Mireia, Grikinienė, Jurgita, Samaitienė-Aleknienė, Rūta, Praninskienė, Rūta, Ardeshir Monavari, Ahmad, Sykut-Cegielska, Jolanta
المصدر: Journal of multidisciplinary healthcare., Auckland : Dove Medical Press Ltd, 2022, vol. 15, p. 553-566. ; ISSN 1178-2390
مصطلحات موضوعية: integrated care, transition, care pathways, care coordination, patient empowerment, management of emergencies
وصف الملف: application/pdf
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6Academic Journal
المصدر: Genes., Basel : MDPI, 2022, vol. 13, no. 3, art. no. 508, p. [1-20]. ; eISSN 2073-4425
مصطلحات موضوعية: inherited metabolic diseases, specific treatments, diagnostics, International Classification of Inherited Metabolic Disorders, congenital disorders of autophagy, disorders of metabolite repair or proofreading, disorders of the synaptic vesicle cycle
وصف الملف: application/pdf
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7Academic Journal
المؤلفون: Tumienė, Birutė, Peters, Harm, Melegh, Bela, Peterlin, Borut, Utkus, Algirdas, Fatkulina, Natalja, Pfliegler, György, Graessner, Holm, Hermanns, Sanja, Scarpa, Maurizio, Blay, Jean-Yves, Ashton, Sharon, McKay, Lucy, Baynam, Gareth
المصدر: Orphanet journal of rare diseases., London : BMC, 2022, vol. 17, art. no. 441, p. [1-20]. ; eISSN 1750-1172
مصطلحات موضوعية: People living with rare disorders, Rare disease awareness, Medical education and training, Patient empowerment, Interprofessional learning, Highly-specialized knowledge, Social accountability
وصف الملف: application/pdf
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8Academic Journal
المؤلفون: Horgan, Denis, Koeva-Balabanova, Jasmina, Capoluongo, Ettore, Jagielska, Beata, Cattaneo, Ivana, Kozaric, Marta, Tumiene, Birute, El Ahl, Jean-Paul, Lal, Jonathan A., Kalra, Dipak, Malats, Nuria
المصدر: HEALTHCARE ; ISSN: 2227-9032
مصطلحات موضوعية: Medicine and Health Sciences, Social Sciences, orphan medicines, drug development, pharmaceutical strategy, policy framework, regulation, rare diseases, patients, EU regulation, incentives, CHALLENGES, OPPORTUNITY, QUESTIONS, FUTURE, ACCESS
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/01HV6FK1A43SRQW73NXBFT7CA5; http://hdl.handle.net/1854/LU-01HV6FK1A43SRQW73NXBFT7CA5; http://doi.org/10.3390/healthcare10091600; https://biblio.ugent.be/publication/01HV6FK1A43SRQW73NXBFT7CA5/file/01HWMH7WH0PEEGZK5SM0AFDG4M
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9Academic Journal
المؤلفون: Chen, Siwei, Abou-Khalil, Bassel W., Afawi, Zaid, Ali, Quratulain Zulfiqar, Amadori, Elisabetta, Anderson, Alison, Anderson, Joe, Andrade, Danielle M., Annesi, Grazia, Arslan, Mutluay, Auce, Pauls, Bahlo, Melanie, Baker, Mark D., Balagura, Ganna, Balestrini, Simona, Banks, Eric, Barba, Carmen, Barboza, Karen, Bartolomei, Fabrice, Bass, Nick, Baum, Larry W., Baumgartner, Tobias H., Baykan, Betül, Bebek, Nerses, Becker, Felicitas, Bennett, Caitlin A., Beydoun, Ahmad, Bianchini, Claudia, Bisulli, Francesca, Blackwood, Douglas, Blatt, Ilan, Borggräfe, Ingo, Bosselmann, Christian, Braatz, Vera, Brand, Harrison, Brockmann, Knut, Buono, Russell J., Busch, Robyn M., Caglayan, S. Hande, Canafoglia, Laura, Canavati, Christina, Castellotti, Barbara, Cavalleri, Gianpiero L., Cerrato, Felecia, Chassoux, Francine, Cherian, Christina, Cherny, Stacey S., Cheung, Ching-Lung, Chou, I-Jun, Chung, Seo-Kyung, Churchhouse, Claire, Ciullo, Valentina, Clark, Peggy O., Cole, Andrew J., Cosico, Mahgenn, Cossette, Patrick, Cotsapas, Chris, Cusick, Caroline, Daly, Mark J., Davis, Lea K., Jonghe, Peter De, Delanty, Norman, Dennig, Dieter, Depondt, Chantal, Derambure, Philippe, Devinsky, Orrin, Vito, Lidia Di, Dickerson, Faith, Dlugos, Dennis J., Doccini, Viola, Doherty, Colin P., El-Naggar, Hany, Ellis, Colin A., Epstein, Leon, Evans, Meghan, Faucon, Annika, Feng, Yen-Chen Anne, Ferguson, Lisa, Ferraro, Thomas N., Silva, Izabela Ferreira Da, Ferri, Lorenzo, Feucht, Martha, Fields, Madeline C., Fitzgerald, Mark, Fonferko-Shadrach, Beata, Fortunato, Francesco, Franceschetti, Silvana, French, Jacqueline A., Freri, Elena, Fu, Jack M., Gabriel, Stacey, Gagliardi, Monica, Gambardella, Antonio, Gauthier, Laura, Giangregorio, Tania, Gili, Tommaso, Glauser, Tracy A., Goldberg, Ethan, Goldman, Alica, Goldstein, David B., Granata, Tiziana, Grant, Riley, Greenberg, David A., Guerrini, Renzo, Gundogdu-Eken, Aslı, Gupta, Namrata, Haas, Kevin, Hakonarson, Hakon, Haryanyan, Garen, Häusler, Martin, Hegde, Manu, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Heyne, Henrike, Hirose, Shinichi, Hirsch, Edouard, Ho, Chen-Jui, Hoeper, Olivia, Howrigan, Daniel P., Hucks, Donald, Hung, Po-Chen, Iacomino, Michele, Inoue, Yushi, Inuzuka, Luciana Midori, Ishii, Atsushi, Jehi, Lara, Johnson, Michael R., Johnstone, Mandy, Kälviäinen, Reetta, Kanaan, Moien, Kara, Bulent, Kariuki, Symon M., Kegele, Josua, Kesim, Yeşim, Khoueiry-Zgheib, Nathalie, Khoury, Jean, King, Chontelle, Klein, Karl Martin, Kluger, Gerhard, Knake, Susanne, Kok, Fernando, Korczyn, Amos D., Korinthenberg, Rudolf, Koupparis, Andreas, Kousiappa, Ioanna, Krause, Roland, Krenn, Martin, Krestel, Heinz, Krey, Ilona, Kunz, Wolfram S., Kurlemann, Gerhard, Kuzniecky, Ruben I., Kwan, Patrick, Vega-Talbott, Maite La, Labate, Angelo, Lacey, Austin, Lal, Dennis, Laššuthová, Petra, Lauxmann, Stephan, Lawthom, Charlotte, Leech, Stephanie L., Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Lesca, Gaetan, Leu, Costin, Lewin, Naomi, Lewis-Smith, David, Li, Gloria Hoi-Yee, Liao, Calwing, Licchetta, Laura, Lin, Chih-Hsiang, Lin, Kuang-Lin, Linnankivi, Tarja, Lo, Warren, Lowenstein, Daniel H., Lowther, Chelsea, Lubbers, Laura, Lui, Colin H. T., Macedo-Souza, Lucia Inês, Madeleyn, Rene, Madia, Francesca, Magri, Stefania, Maillard, Louis, Marcuse, Lara, Marques, Paula, Marson, Anthony G., Matthews, Abigail G., May, Patrick, Mayer, Thomas, McArdle, Wendy, McCarroll, Steven M., McGoldrick, Patricia, McGraw, Christopher M., McIntosh, Andrew, McQuillan, Andrew, Meador, Kimford J., Mei, Davide, Michel, Véronique, Millichap, John J., Minardi, Raffaella, Montomoli, Martino, Mostacci, Barbara, Muccioli, Lorenzo, Muhle, Hiltrud, Müller-Schlüter, Karen, Najm, Imad M., Nasreddine, Wassim, Neaves, Samuel, Neubauer, Bernd A., Newton, Charles R. J. C., Noebels, Jeffrey L., Northstone, Kate, Novod, Sam, O’Brien, Terence J., Owusu-Agyei, Seth, Özkara, Çiğdem, Palotie, Aarno, Papacostas, Savvas S., Parrini, Elena, Pato, Carlos, Pato, Michele, Pendziwiat, Manuela, Pennell, Page B., Petrovski, Slavé, Pickrell, William O., Pinsky, Rebecca, Pinto, Dalila, Pippucci, Tommaso, Piras, Fabrizio, Piras, Federica, Poduri, Annapurna, Pondrelli, Federica, Posthuma, Danielle, Powell, Robert H. W., Privitera, Michael, Rademacher, Annika, Ragona, Francesca, Ramirez-Hamouz, Byron, Rau, Sarah, Raynes, Hillary R., Rees, Mark I., Regan, Brigid M., Reif, Andreas, Reinthaler, Eva, Rheims, Sylvain, Ring, Susan M., Riva, Antonella, Rojas, Enrique, Rosenow, Felix, Ryvlin, Philippe, Saarela, Anni, Sadleir, Lynette G., Salman, Barış, Salmon, Andrea, Salpietro, Vincenzo, Sammarra, Ilaria, Scala, Marcello, Schachter, Steven, Schaller, André, Schankin, Christoph J., Scheffer, Ingrid E., Schneider, Natascha, Schubert-Bast, Susanne, Schulze-Bonhage, Andreas, Scudieri, Paolo, Sedláčková, Lucie, Shain, Catherine, Sham, Pak C., Shiedley, Beth R., Siena, S. Anthony, Sills, Graeme J., Sisodiya, Sanjay M., Smoller, Jordan W., Solomonson, Matthew, Spalletta, Gianfranco, Sparks, Kathryn R., Sperling, Michael R., Stamberger, Hannah, Steinhoff, Bernhard J., Stephani, Ulrich, Štěrbová, Katalin, Stewart, William C., Stipa, Carlotta, Striano, Pasquale, Strzelczyk, Adam, Surges, Rainer, Suzuki, Toshimitsu, Talarico, Mariagrazia, Talkowski, Michael E., Taneja, Randip S., Tanteles, George A., Timonen, Oskari, Timpson, Nicholas John, Tinuper, Paolo, Todaro, Marian, Topaloglu, Pınar, Tsai, Meng-Han, Tumiene, Birute, Turkdogan, Dilsad, Uğur-İşeri, Sibel, Utkus, Algirdas, Vaidiswaran, Priya, Valton, Luc, van Baalen, Andreas, Vari, Maria Stella, Vetro, Annalisa, Vlčková, Markéta, von Brauchitsch, Sophie, von Spiczak, Sarah, Wagner, Ryan G., Watts, Nick, Weber, Yvonne G., Weckhuysen, Sarah, Widdess-Walsh, Peter, Wiebe, Samuel, Wolf, Steven M., Wolff, Markus, Wolking, Stefan, Wong, Isaac, von Wrede, Randi, Wu, David, Yamakawa, Kazuhiro, Yapıcı, Zuhal, Yis, Uluc, Yolken, Robert, Yücesan, Emrah, Zagaglia, Sara, Zahnert, Felix, Zara, Federico, Zimprich, Fritz, Zizovic, Milena, Zsurka, Gábor, Neale, Benjamin M., Berkovic, Samuel F.
Relation: Chen, S. et al. (2024) Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes. Nature Neuroscience , 27(10), pp. 1864-1879. (doi:10.1038/s41593-024-01747-8 ) (PMID:39363051)
الاتاحة: https://eprints.gla.ac.uk/338083/
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10Academic Journal
المؤلفون: Mimouni, Yanis, Halftermeyer, Juliane, Petton, Yanna, Adam, Pauline, Moreau, Clément, Rath, Ana, Favresse, Roseline, Tumiene, Birute, Julkowska, Daria
المصدر: Rare Disease and Orphan Drugs Journal ; volume 3, issue 3 ; ISSN 2771-2893
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11Academic Journal
المؤلفون: Stevelink, Remi, Luykx, Jurjen J., Lin, Bochao D., Leu, Costin, Lal, Dennis, Smith, Alexander W., Schijven, Dick, Carpay, Johannes A., Rademaker, Koen, Rodrigues Baldez, Roiza A., Devinsky, Orrin, Braun, Kees P. J., Jansen, Floor E., Smit, Dirk J. A., Koeleman, Bobby P. C., Abou‐Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Balding, David J., Bast, Thomas, Baum, Larry, Becker, Albert J., Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F., Boysen, Katja E., Bradfield, Jonathan P., Brody, Lawrence C., Buono, Russell J., Campbell, Ellen, Cascino, Gregory D., Catarino, Claudia B., Cavalleri, Gianpiero L., Cherny, Stacey S., Chinthapalli, Krishna, Coffey, Alison J., Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J., Haan, Gerrit‐Jan, De Jonghe, Peter, Kovel, Carolien G. F., Delanty, Norman, Depondt, Chantal, Dlugos, Dennis J., Doherty, Colin P., Elger, Christian E., Eriksson, Johan G., Ferraro, Thomas N., Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A., Freytag, Saskia, Gaus, Verena, Geller, Eric B., Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gui, Hongsheng, Guo, Youling, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andrés, Jamnadas‐Khoda, Jennifer, Johnson, Michael R., Kälviäinen, Reetta, Kantanen, Anne‐Mari, Kasperavičiūte, Dalia, Kasteleijn‐Nolst Trenite, Dorothee, Kirsch, Heidi E., Knowlton, Robert C., Krause, Roland, Krenn, Martin, Kunz, Wolfram S., Kuzniecky, Ruben, Kwan, Patrick, Lau, Yu‐Lung, Lehesjoki, Anna‐Elina, Lerche, Holger, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D., Lopes‐Cendes, Iscia, Lowenstein, Daniel H., Malovini, Alberto, Marson, Anthony G., Mayer, Thomas, McCormack, Mark, Mills, James L., Mirza, Nasir, Moerzinger, Martina, Møller, Rikke S., Molloy, Anne M., Muhle, Hiltrud, Newton, Mark, Ng, Ping‐Wing, Nöthen, Markus M., Nürnberg, Peter, O’Brien, Terence J., Oliver, Karen L., Palotie, Aarno, Pangilinan, Faith, Peter, Sarah, Petrovski, Slavé, Poduri, Annapurna, Privitera, Michael, Radtke, Rodney, Rau, Sarah, Reif, Philipp S., Reinthaler, Eva M., Rosenow, Felix, Sander, Josemir W., Sander, Thomas, Scattergood, Theresa, Schachter, Steven C., Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schoch, Susanne, Sham, Pak C., Shih, Jerry J., Sills, Graeme J., Sisodiya, Sanjay M., Slattery, Lisa, Smith, David F., Smith, Michael C., Smith, Philip E., Sonsma, Anja C. M., Speed, Doug, Sperling, Michael R., Steinhoff, Bernhard J., Stephani, Ulrich, Strauch, Konstantin, Striano, Pasquale, Stroink, Hans, Surges, Rainer, Tan, K. Meng, Thio, Liu Lin, Thomas, G. Neil, Todaro, Marian, Tozzi, Rossana, Vari, Maria S., Vining, Eileen P. G., Visscher, Frank, Spiczak, Sarah, Walley, Nicole M., Weber, Yvonne G., Wei, Zhi, Mameniškienė, Rūta, Weisenberg, Judith, Whelan, Christopher D., Widdess‐Walsh, Peter, Wolff, Markus, Wolking, Stefan, Yang, Wanling, Zara, Federico, Zimprich, Fritz, Feng, Yen‐Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Churchhouse, Claire, Gupta, Namrata, Gabriel, Stacey B., Daly, Mark J., Lander, Eric S., Neale, Benjamin M., Cotsapas, Chris, Dixon‐Salazar, Tracy, Guerrini, Renzo, Kamalakaran, Sitharthan, Stewart, Randy, Weckhuysen, Sarah, Freyer, Catharine, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Bennett, Caitlin A., Johns, Esther M.C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, O'Brien, Terence J., Stamberger, Hannah, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Knake, Susanne, Zsurka, Gábor, Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Rademacher, Annika, Baalen, Andreas, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller‐Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Maisch, Ana F., Schulze‐Bonhage, Andreas, Schubert‐Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Rees, Mark I., Chung, Seo‐Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Baum, Larry W., Lui, Colin H.T., Barišić, Nina, Shukralla, Arif, El‐Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Madia, Francesca, Stella Vari, Maria, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumienė, Birutė, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu‐Eken, Aslı, Bebek, Nerses, Uğur‐İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Lo, Warren, Schachter, Steven, Kuzniecky, Ruben I., Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Baldez, Roiza A. Rodrigues
المصدر: Epilepsia., Hoboken : John Wiley and Sons Inc, 2021, vol. 62, iss. 7, p. 1518-1527. ; ISSN 0013-9580 ; eISSN 1528-1167
مصطلحات موضوعية: beta power, EEG, generalized epilepsy, GGE, oscillations, PRS
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12Academic Journal
المؤلفون: Koko, Mahmoud, Krause, Roland, Sander, Thomas, Bobbili, Dheeraj Reddy, Nothnagel, Michael, May, Patrick, Lerche, Holger, Feng, Yen-Chen Anne, Howrigan, Daniel P, Abbott, Liam E, Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L, Dhindsa, Ryan S, Stanley, Kate E, Cavalleri, Gianpiero L, Hakonarson, Hakon, Helbig, Ingo, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M, Cossette, Patrick, Cotsapas, Chris, DeJonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G, Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J, Scheffer, Ingrid E, Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M, Bellows, Susannah T, Leu, Costin, Bennett, Caitlin A, Johns, Esther M C, Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O'Brien, Terence J, Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M, Sadoway, Tara R, Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S, Kousiappa, Ioanna, Tanteles, George A, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S, Knake, Susanne, Kunz, Wolfram S, Zsurka, Gábor, Elger, Christian E, Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, vanBaalen, Andreas, vonSpiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D, Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R, Krey, Ilona, Weber, Yvonne G, Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F, Steinhoff, Bernhard J, Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I, Chung, Seo-Kyung, Pickrell, William O, Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R, Auce, Pauls, Sills, Graeme J, Baum, Larry W, Sham, Pak C, Cherny, Stacey S, Lui, Colin H T, Barišić, Nina, Delanty, Norman, Doherty, Colin P, Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumienė, Birutė, Sadleir, Lynette G, King, Chontelle, Mountier, Emily, Caglayan, Hande S, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R, Shain, Catherine, Buono, Russell J, Ferraro, Thomas N, Sperling, Michael R, Lo, Warren, Privitera, Michael, French, Jacqueline A, Schachter, Steven, Kuzniecky, Ruben I, Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L, Ellis, Colin A, Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Pato, Michele T, Pato, Carlos N, Bromet, Evelyn J, Carvalho, Celia Barreto, Achtyes, Eric D, Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S, Malaspina, Dolores, Marder, Stephen R, Medeiros, Helena, Morley, Christopher P, Perkins, Diana O, Sobell, Janet L, Buckley, Peter F, Macciardi, Fabio, Rapaport, Mark H, Knowles, James A, Cohort, Genomic Psychiatry, Fanous, Ayman H, McCarroll, Steven A, Gupta, Namrata, Gabriel, Stacey B, Daly, Mark J, Lander, Eric S, Lowenstein, Daniel H, Goldstein, David B, Berkovic, Samuel F, Neale, Benjamin M
المصدر: eBioMedicine., Amsterdam : Elsevier BV, 2021, vol. 72, art. no. 103588, p. [1-13]. ; ISSN 2352-3964 ; eISSN 2352-3964
مصطلحات موضوعية: Burden analysis, Ultra-rare variants, Gene-sets, Epilepsy, Exome sequencing
وصف الملف: application/pdf
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13Academic Journal
المؤلفون: Tumiene, Birute, Graessner, Holm, Mathijssen, Irene Mj, Pereira, Alberto M., Schaefer, Franz, Scarpa, Maurizio, Blay, Jean Yves, Dollfus, Helene, Hoogerbrugge, Nicoline
المصدر: Tumiene , B , Graessner , H , Mathijssen , I M , Pereira , A M , Schaefer , F , Scarpa , M , Blay , J Y , Dollfus , H & Hoogerbrugge , N 2021 , ' European Reference Networks : challenges and opportunities ' , Journal of Community Genetics , vol. 12 , no. 2 , pp. 217-229 . https://doi.org/10.1007/s12687-021-00521-8
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
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14Academic Journal
المؤلفون: Canafoglia, Laura, Goldstein, David B., Lowenstein, Daniel H., Lerche, Holger, Berkovic, Samuel F., Fitch, Eryn, Vaidiswaran, Priya, Cosico, Mahgenn, Helbig, Katherine L., Goldberg, Ethan, Ellis, Colin A., Greenberg, David A., Hegde, Manu, Devinsky, Orrin, French, Jacqueline A., Privitera, Michael, Lo, Warren, Sperling, Michael R., Ferraro, Thomas N., Shiedley, Beth R., Lin, Kuang-Lin, Lin, Chih-Hsiang, Ho, Chen-Jui, Tsai, Meng-Han, Bebek, Nerses, Gundogdu-Eken, Asli, Caglayan, S. Hande, Yamakawa, Kazuhiro, Hirose, Shinichi, Doccini, Viola, Montomoli, Martino, Mei, Davide, Parrini, Elena, Gagliardi, Monica, Manna, Lorella, Annesi, Grazia, Labate, Angelo, Gambardella, Antonio, Mostacci, Barbara, Dixon-Salazar, Tracy, Guerrini, Renzo, Muccioli, Lorenzo, Hakonarson, Hakon, Heinzen, Erin L., Tinuper, Paolo, Licchetta, Laura, Amadori, Elisabetta, Nobili, Lino, Mancardi, Maria Margherita, Scala, Marcello, Salpietro, Vincenzo, Madia, Francesca, Riva, Antonella, Iacomino, Michele, Helbig, Ingo, Zara, Federico, Ragona, Francesca, Granata, Tiziana, Castellotti, Barbara, Franceschetti, Silvana, Barisi, Nina, Widdess-Walsh, Peter, Kwan, Patrick, El-Naggar, Hany, Marson, Anthony G., Shukralla, Arif, Doherty, Colin P., Johnson, Michael R., Braatz, Vera, Anderson, Joseph, Zsurka, Gabor, Lesca, Gaetan, Rheims, Sylvain, Lehesjoki, Anna-Elina, Linnankivi, Tarja, Timonen, Oskari, Saarela, Anni, Kalviainen, Reetta, Madeleyn, Rene, Surges, Rainer, Dennig, Dieter, Wolff, Markus, Baumgartner, Tobias, Brockmann, Knut, Korinthenberg, Rudolf, Mayer, Thomas, Schreiber, Herbert, Schankin, Christoph J., Borggraefe, Ingo, Schulze-Bonhage, Andreas, von Wrede, Randi, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Steinhoff, Bernhard J., Rau, Sarah, Canavati, Christina, Hengsbach, Christian, Kegele, Josua, Bosselmann, Christian, Kurlemann, Gerhard, Lauxmann, Stephan, Muller-Schluter, Karen, Becker, Felicitas, Wolking, Stefan, Kluger, Gerhard, Haeusler, Martin, von Spiczak, Sarah, Blatt, Ilan, van Baalen, Andreas, Rademacher, Annika, Muhle, Hiltrud, Pendziwiat, Manuela, Kunz, Wolfram S., Lemke, Johannes R., Reinthaler, Eva M., Neubauer, Bernd A., Knake, Susanne, Reif, Philipp S., Rosenow, Felix, Klein, Karl Martin, Lassuthova, Petra, Sedlackova, Lucie, Sterbova, Katalin, Krey, Ilona, Weber, Yvonne G., Hirsch, Edouard, Chassoux, Francine, Christou, Yiolanda, Tanteles, George A., Kousiappa, Ioanna, Rees, Mark, Powell, Robert, Fonferko-Shadrach, Beata, Papacostas, Savvas S., Schneider, Natascha, Balestrini, Simona, Schaller, Andre, Zagaglia, Sara, Auce, Pauls, Krestel, Heinz, Sills, Graeme J., Sadoway, Tara R., Ali, Quratulain Zulfiqar, Andrade, Danielle M., Stamberger, Hannah, Todaro, Marian, Baum, Larry W., Leech, Stephanie L., Leu, Costin, Bennett, Caitlin A., Regan, Brigid M., Sham, Pak C., McKenna, Kevin, May, Patrick, Krause, Roland, De Jonghe, Peter, Cotsapas, Chris, Cossette, Patrick, Cavalleri, Gianpiero L., Neale, Benjamin M., Gupta, Namrata, Cherny, Stacey S., Lui, Colin H. T., Lal, Dennis, Solomonson, Matthew, Delanty, Norman, Watts, Nick, Churchhouse, Claire, Byrnes, Andrea E., Heyne, Henrike, Singh, Tarjinder, Cusick, Caroline, Cerrato, Felecia, Tashman, Katherine, Abbott, Liam E., Howrigan, Daniel P., Feng, Yen-Chen Anne, Vari, Maria Stella, Jehi, Lara, Giacomini, Thea, Bisulli, Francesca, Allen, Andrew S., Stanley, Kate E., Dhindsa, Ryan S., Povysil, Gundula, Pippucci, Tommaso, Motelow, Joshua E., Minardi, Raffaella, Vetro, Annalisa, Bianchini, Claudia, Barba, Carmen, Ishii, Atsushi, Suzuki, Toshimitsu, Inoue, Yushi, Beydoun, Ahmad, Nasreddine, Wassim, Schubert-Bast, Susanne, Zgheib, Nathalie Khoueiry, Tumiene, Birute, Utkus, Algirdas, Sadleir, Lynette G., King, Chontelle, Kuzniecky, Ruben, Schachter, Steven, Buono, Russell J., Arslan, Mutluay, Clark, Peggy O., Yapici, Zuhal, Topaloglu, Pinar, Yis, Uluc, Turkdogan, Dilsad, Chou, I-Jun, Poduri, Annapurna, Glauser, Tracy A., Khoury, Jean, Shain, Catherine, Kara, BÜLENT, Ferguson, Lisa, Najm, Imad M., Busch, Robyn M., Goldman, Alicia, Noebels, Jeffrey L., Lawthom, Charlotte, Baker, Mark D., Pickrell, William O., Petrovski, Slave, Chung, Seo-Kyung, Kamalakaran, Sitharthan, Michel, Veronique, Sisodiya, Sanjay M., Stewart, Randy, Weckhuysen, Sarah, Bartolomei, Fabrice, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, O'Brien, Terence J., Vlckova, Marketa, Zimprich, Friedrich, Derambure, Philippe, Feucht, Martha, Valton, Luc, Maillard, Louis, Ryvlin, Philippe
Relation: 0eacb4d1-c0d8-4723-ac08-0ba3905057a6; https://avesis.kocaeli.edu.tr/publication/details/0eacb4d1-c0d8-4723-ac08-0ba3905057a6/oai
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15Academic Journal
المصدر: Journal of Community Genetics ; volume 12, issue 2, page 205-206 ; ISSN 1868-310X 1868-6001
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16Conference
المؤلفون: Blažytė, Evelina Marija, Šiaurytė, Kamilė, Matulevičienė, Aušra, Ambrozaitytė, Laima, Aleksiūnienė, B., Burnytė, Birutė, Preikšaitienė, Eglė, Dagytė, Evelina, Tumienė, Birutė, Mikštienė, Violeta, Benušienė, Eglė, Krasovskaja, Natalija, Cimbalistienė, Loreta, Utkus, Algirdas
المصدر: European journal of human genetics: vol. 27, suppl. 2: abstracts from the 52nd European Society of Human Genetics (ESHG) Conference, London : Springer, 2019, vol. 27, suppl. 2, p. 1869-1870 ; ISSN 1018-4813 ; eISSN 1476-5438
مصطلحات موضوعية: 22q11.2 region, SNP-CGH and FISH analysis, intellectual disability
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17Academic Journal
المؤلفون: Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, Van Lingen, Corine, Scarpa, Maurizio, Matthijs, Gert, Nassogne, Marie-Cécile, Debray, François-Guillaume, Roland, Dominique, Chamova, Teodora, Kozich, Viktor, Pavel, Jesina, Zenker, Martin, Lampe, Christina, Das, Anihb Martin, Hennermann, Julia, Kölker, Stefan, Weinhold, Natalie, Mohnike, Klaus, Gruenert, Sarah, Lund, Allan Meldgaard, Morales-Conejo, Montserrat, Del Toro-Riera, Mireia, Aldámiz-Echevarría, Luis, Garcia-Silva, Maria-Teresa, Schiff, Manuel, Gouya, Laurent, De Lonlay, Pascale, Belmatoug, Nadia, Germain, Dominique P., Cano, Aline, Dobbelaere, Dries, Jones, Simon, Dawson, Charlotte, Deegan, Patrick, Santra, Saikat, Vijay, Suresh, Petkovic Ramadza, Danijela, Barić, Ivo, Žigman, Tamara, Pflieger, György, Szakszon, Katalin, Kaposta, Rita, Gasperini, Serena, Burlina, Alberto, Parenti, Giancarlo, Strisciuglio, Pietro, Ceccarini, Giovanni, Federico, Antonio, Simonati, Alessandro, Tumienė, Birutė, Huidekoper, Hidde, Van Spronsen, Francian, Bosch, Annet, Rubio-Gozalbo, Maria-Estela, Visser, Gepke, Tangeraas, Trine, Aarsand, Aasne, Kieć-Wilk, Beata, Mendes Gaspar, Ana-Maria Simões, Quelhas, Dulce, Leao-Teles, Elisa, Azevedo, Olga, Rodriges Silva, Esmeralda-Maria Ferreira, De Abreu Freire, Luísa-Maria Diogo Matos, Martins, Esmeralda, Lajic, Svetlana, Darin, Niklas, Groselj, Urh, Tansek, Mojca-Zerjav
المصدر: Orphanet journal of rare diseases., London : BMC, 2020, vol. 15, no. 1, art. no. 3, p. [1-7]. ; eISSN 1750-1172
مصطلحات موضوعية: access to treatment., European Reference Network., hereditary metabolic diseases., inborn errors of metabolism., orphan medicinal product
وصف الملف: application/pdf
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18Academic Journal
المؤلفون: Horgan, Denis, Hackett, Joanne, Westphalen, C Benedikt, Kalra, Dipak, Richer, Etienne, Romao, Mario, Andreu, Antonio L, Lal, Jonathan A, Bernini, Chiara, Tumiene, Birute, Boccia, Stefania, Montserrat, Antoni
المصدر: Horgan , D , Hackett , J , Westphalen , C B , Kalra , D , Richer , E , Romao , M , Andreu , A L , Lal , J A , Bernini , C , Tumiene , B , Boccia , S & Montserrat , A 2020 , ' Digitalisation and COVID-19 : The Perfect Storm ' , Biomedicine Hub , vol. 5 , no. 3 , pp. 1341-1363 . https://doi.org/10.1159/000511232
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19Academic Journal
المؤلفون: Horgan, Denis, Moss, Barbara, Boccia, Stefania, Genuardi, Maurizio, Gajewski, Maciej, Capurso, Gabriele, Fenaux, Pierre, Gulbis, Beatrice, Pellegrini, Mariangela, Mañú Pereira, Maria del Mar, Gutiérrez Valle, Victoria, Gutiérrez Ibarluzea, Iñaki, Kent, Alastair, Cattaneo, Ivana, Jagielska, Beata, Belina, Ivica, Tumiene, Birute, Ward, Adrian, Papaluca, Marisa
المصدر: Biomedicine Hub ; volume 5, issue 2, page 1-11 ; ISSN 2296-6870
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20Conference
المؤلفون: Šliužas, Vytautas, Aleksiūnienė, Beata, Dagytė, Evelina, Ambrozaitytė, Laima, Tumienė, Birutė, Burnytė, Birutė, Utkus, Algirdas
المصدر: European human genetics conference 2017, Copenhagen, Denmark, May 27-30, Copenhagen : ESHG, 2017, abstract no. E-P11.01
مصطلحات موضوعية: 16p11.2, CNVs, speech delay