المؤلفون: Walsh Tom, Rayan Amal, Sa'ed Judeh, Shahin Hashem, Shepshelovich Jeanne, Lee Ming K, Hirschberg Koret, Tekin Mustafa, Salhab Wa'el, Avraham Karen B, King Mary-Claire, Kanaan Moien

المصدر: Human Genomics, Vol 2, Iss 4, Pp 203-211 (2006)

مصطلحات موضوعية: genetics, genomics, inherited, deafness, hearing loss, mutation, Palestinian, TMPRSS3, pendrin, otoancorin, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.humgenomics.com/content/2/4/203Test; https://doaj.org/toc/1479-7364Test

الوصول الحر: https://doaj.org/article/7a26a3f0923b479483cd2c05d27d8ea7Test

المؤلفون: Colbert, Brett M., Lanting, Cris, Smeal, Molly, Blanton, Susan, Dykxhoorn, Derek M., Tang, Pei Ciao, Getchell, Richard L., Velde, Hedwig, Fehrmann, Mirthe, Thorpe, Ryan, Chapagain, Prem, Elkhaligy, Heidy, Kremer, Hannie, Yntema, Helger, Haer-Wigman, Lonneke, Redfield, Shelby, Sun, Tieqi, Bruijn, Saskia, Plomp, Astrid, Goderie, Thadé, van de Kamp, Jiddeke, Free, Rolien H., Wassink-Ruiter, Jolien Klein, Widdershoven, Josine, Vanhoutte, Els, Rotteveel, Liselotte, Kriek, Marjolein, van Dooren, Marieke, Hoefsloot, Lies, de Gier, Heriette H.W., Schaefer, Amanda, Kolbe, Diana, Azaiez, Hela, Rabie, Grace, Aburayyan, Armal, Kawas, Mariana, Kanaan, Moien, Holder, Jourdan, Usami, Shin Ichi, Chen, Zhengyi, Dai, Pu, Holt, Jeffrey, Nelson, Rick, Choi, Byung Yoon, Shearer, Eliot, Smith, Richard J.H., Pennings, Ronald, Liu, Xue Zhong

المصدر: Colbert , B M , Lanting , C , Smeal , M , Blanton , S , Dykxhoorn , D M , Tang , P C , Getchell , R L , Velde , H , Fehrmann , M , Thorpe , R , Chapagain , P , Elkhaligy , H , Kremer , H , Yntema , H , Haer-Wigman , L , Redfield , S , Sun , T , Bruijn , S , Plomp , A , Goderie , T , van de Kamp , J , Free , R H , Wassink-Ruiter , J K ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/94015cae-b782-4162-831a-da6dd6861af9Test

الإتاحة: https://doi.org/10.1007/s00439-024-02648-3Test
https://pure.eur.nl/en/publications/94015cae-b782-4162-831a-da6dd6861af9Test
https://pure.eur.nl/ws/files/149998458/s00439-024-02648-3.pdfTest
http://www.scopus.com/inward/record.url?scp=85191991084&partnerID=8YFLogxKTest

المؤلفون: Canavati, Christina, Sherill-Rofe, Dana, Kamal, Lara, Bloch, Idit, Zahdeh, Fouad, Sharon, Elad, Terespolsky, Batel, Allan, Islam Abu, Rabie, Grace, Kawas, Mariana, Kassem, Hanin, Avraham, Karen B., Renbaum, Paul, Levy-Lahad, Ephrat, Kanaan, Moien, Tabach, Yuval

المساهمون: Israel Science Foundation, Koum Foundation, National Institutes of Health/NIDCD

المصدر: Genome Medicine ; volume 16, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-023-01276-2Test

المؤلفون: Collaborative, Epi25, 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, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M, Cossette, Patrick, Cotsapas, Chris, De Jonghe, 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 MC, 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, 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, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F, Steinhoff, Bernhard J, Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert

المصدر: American Journal of Human Genetics. 105(2)

مصطلحات موضوعية: Clinical Research, Human Genome, Neurosciences, Epilepsy, Biotechnology, Genetics, Neurodegenerative, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Case-Control Studies, DNA Mutational Analysis, Exome, Genetic Markers, Genetic Predisposition to Disease, Genetic Variation, Humans, Phenotype, Exome Sequencing, Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au, Epi25 Collaborative, burden analysis, epilepsy, epileptic encephalopathy, exome, seizures, sequencing, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0wz3s560Test

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

العلاقة: https://epublications.vu.lt/object/elaba:172752928/172752928.pdfTest; https://repository.vu.lt/VU:ELABAPDB172752928&prefLang=en_USTest

الإتاحة: https://doi.org/10.1038/s41467-023-39539-6Test
https://repository.vu.lt/VU:ELABAPDB172752928&prefLang=en_USTest

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 Reddy, 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 Saeed Fathy Sayed, 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., Kasperavičiūte, Dalia, Kasteleijn-Nolst Trenite, Dorothee, Kato, Mitsuhiro, Kegele, Josua, Kesim, Yeşim, 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, Çiğdem, 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, Topaloğlu, Pınar, 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, Epilepsies, International League Against Epilepsy Consortium On Complex

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: Nature Genetics (2023-07-31)

مصطلحات موضوعية: Epilepsy, GWAS, sub-phenotypes, Life sciences, Genetics & genetic processes, Human health sciences, Neurology, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Neurologie

العلاقة: https://doi.org/10.1038/s41588-023-01485-wTest; FNR16394868 - Epileptogenesis Of Genetic Epilepsies, 2021 (01/10/2021-.) - Alexander Skupin; urn:issn:1546-1718; https://orbilu.uni.lu/handle/10993/56044Test; info:hdl:10993/56044; https://orbilu.uni.lu/bitstream/10993/56044/1/ILAE.GWAS.NatGenet.2023.pdfTest; scopus-id:2-s2.0-85169457451; info:pmid:37653029

الإتاحة: https://doi.org/10.1038/s41588-023-01485-wTest
https://orbilu.uni.lu/handle/10993/56044Test
https://orbilu.uni.lu/bitstream/10993/56044/1/ILAE.GWAS.NatGenet.2023.pdfTest

المؤلفون: Rayyan, Amal Abu, Kamal, Lara, Casadei, Silvia, Brownstein, Zippora, Zahdeh, Fouad, Shahin, Hashem, Canavati, Christina, Dweik, Dima, Jaraysa, Tamara, Rabie, Grace, Carlson, Ryan J., Gulsuner, Suleyman, Lee, Ming K., Avraham, Karen B., Walsh, Tom, King, Mary-Claire, Kanaan, Moien N.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 Aug . 117(33), 20070-20076.

الوصول الحر: https://www.jstor.org/stable/26968604Test

المؤلفون: Elson, Ari, Stein, Merle, Rabie, Grace, Barnea-Zohar, Maayan, Winograd-Katz, Sabina, Reuven, Nina, Shalev, Moran, Sekeres, Juraj, Kanaan, Moien, Tuckermann, Jan, Geiger, Benjamin

مصطلحات موضوعية: ARO, SNX10, Sorting Nexin 10, DDC 610 / Medicine & health, Osteopetrosis, Osteoclasts, Bone resorption, Osteoklast, Knochenwachstum, Osteolyse

وصف الملف: application/pdf; image/tiff

العلاقة: http://dx.doi.org/10.18725/OPARU-45704Test; https://oparu.uni-ulm.de/xmlui/123456789/45780Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-45780-2Test

الإتاحة: https://doi.org/10.18725/OPARU-45704Test
https://oparu.uni-ulm.de/xmlui/123456789/45780Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-45780-2Test

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

وصف الملف: application/pdf

العلاقة: https://epublications.vu.lt/object/elaba:119180649/119180649.pdfTest; https://repository.vu.lt/VU:ELABAPDB119180649&prefLang=en_USTest

الإتاحة: https://doi.org/10.1111/epi.16922Test
https://repository.vu.lt/VU:ELABAPDB119180649&prefLang=en_USTest

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

العلاقة: https://epublications.vu.lt/object/elaba:118351307/118351307.pdfTest; https://repository.vu.lt/VU:ELABAPDB118351307&prefLang=en_USTest

الإتاحة: https://doi.org/10.1016/j.ebiom.2021.103588Test
https://repository.vu.lt/VU:ELABAPDB118351307&prefLang=en_USTest