학술논문
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'학술논문'
에서 검색결과 96건 | 목록
1~20
Academic Journal
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Academic Journal
Journal of Clinical Medicine. September, 2024, Vol. 13 Issue 18
Academic Journal
Front Psychol
Frontiers in Psychology, Vol 14 (2023)
Frontiers in Psychology, Vol 14 (2023)
Academic Journal
Stamberger, Hannah; Hammer, Trine B; Gardella, Elena; Vlaskamp, Danique R M; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T; Fenger, Christina; Afawi, Zaid; Almanza Fuerte, Edith P; Andrade, Danielle M; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F; Berkovic, Samuel F; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Øyvind L; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R; Hildebrand, Michael S; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W; Koeleman, Bobby P C; Koolen, David A; Korff, Christian; Küry, Sébastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J; Mackay, Mark T; Macke, Erica L; McEntagart, Meriel; Mohammad, Shekeeb S; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle Nathalie; Reed, Laura; Reif, Philipp S; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G; Sadoway, Tara; Schelhaas, Helenius J; Schneider, Amy L; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M; Smol, Thomas; Stumpel, Connie T R M; Stuurman, Kyra; Symonds, Joseph D; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A; Zerem, Ayelet; Zuberi, Sameer M; Guerrini, Renzo; Mefford, Heather C; Patel, Chirag; Zhang, Yue-Hua; Møller, Rikke S; Scheffer, Ingrid E
Genetics in Medicine, 23, 2, pp. 363-373
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in medicine
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G,Lev , D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in Medicine, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G,Lev , D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y-H, Møller, R S & Scheffer, I E 2021, 'NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 2, pp. 363-373. https://doi.org/10.1038/s41436-020-00988-9
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in medicine
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G,
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G,
Academic Journal
Gur-Hartman, Tamar; Berkowitz, Oren; Yosovich, Keren; Roubertie, Agathe; Zanni, Ginevra; Macaya, Alfons; Heimer, Gali; Dueñas, Belén Pérez; Sival, Deborah; Pode-Shakked, Ben; López-Laso, Eduardo; Humbertclaude, Véronique; Riant, Florence; Bosco, Luca; Cayron, Lital Bachar; Nissenkorn, Andreea; Nicita, Francesco; Bertini, Enrico; Hassin, Sharon; Ben Zeev, Bruria; Zerem, Ayelet; Libzon, Stephanie; Lev, Dorit; Linder, Ilan; Lerman-Sagie, Tally; Blumkin, Lubov
European Journal of Paediatric Neurology. 30:144-154
Conference
Proceedings of the 8th annual conference on Innovation and technology in computer science education. :144-148
Academic Journal
International Journal of Environmental Research and Public Health. March, 2023, Vol. 20 Issue 6
Academic Journal
Lorena, Travaglini; Francesco, Brancati; Jennifer, Silhavy; Miriam, Iannicelli; Elizabeth, Nickerson; Nadia, Elkhartoufi; Eric, Scott; Emily, Spencer; Stacey, Gabriel; Sophie, Thomas; Bruria, Ben Zeev; Enrico, Bertini; Eugen, Boltshauser; Malika, Chaouch; Maria, Roberta Cilio; Mirjam, M. de Jong; Hulya, Kayserili; Gonul, Ogur; Andrea, Poretti; Sabrina, Signorini; Graziella, Uziel; Maha, S. Zaki; Ali Pacha L; Zankl A; Leventer R; Grattan Smith P; Janecke A; Koch J; Freilinger M; D'Hooghe M; Sznajer Y; Vilain C; Van Coster R; Demerleir L; Dias K; Moco C; Moreira A; Ae Kim C; Maegawa G; Dakovic I; Loncarevic D; Mejaski Bosnjak V; Petkovic D; Abdel Salam GM; Abdel Aleem A; Marti I; Pinard JM; Quijano Roy S; Sigaudy S; de Lonlay P; Romano S; Verloes A; Touraine R; Koenig M; Dollfus H; Flori E; Fradin M; Lagier Tourenne C; Messer J; Collignon P; Penzien JM; Bussmann C; Merkenschlager A; Philippi H; Kurlemann G; Grundmann K; Dacou Voutetakis C; Kitsiou Tzeli S; Pons R; Jerney J; Halldorsson S; Johannsdottir J; Ludvigsson P; Phadke SR; Girisha KM; Doshi H; Udani V; Kaul M; Stuart B; Magee A; Spiegel R; Shalev S; Mandel H; Lev D; Michelson M; Idit M; Ben Zeev B; Gershoni Baruch R; Ficcadenti A; Fischetto R; Gentile M; Della Monica M; Pezzani M; Graziano C; Seri M; Benedicenti F; Stanzial F; Borgatti R; Romaniello R; Accorsi P; Battaglia S; Fazzi E; Giordano L; Pinelli L; Boccone L; Barone R; Sorge G; Briatore E; Bigoni S; Ferlini A; Donati MA; Biancheri R; Caridi G; Divizia MT; Faravelli F; Ghiggeri G; Mirabelli M; Pessagno A; Rossi A; Uliana V; Amorini M; Briguglio M; Briuglia S; Salpietro CD; Tortorella G; Adami A; Bonati MT; Castorina P; D'Arrigo S; Lalatta F; Marra G; Moroni I; Pantaleoni C; Riva D; Scelsa B; Spaccini L; Del Giudice E; Ludwig K; Permunian A; Suppiej A; Macaluso C; Pichiecchio A; Battini R; Di Giacomo M; Priolo M; Timpani P; Pagani G; Di Sabato ML; Emma F; Leuzzi V; Mancini F; Majore S; Micalizzi A; Parisi P; Romani M; Stringini G; Zanni G; Ulgheri L; Pollazzon, M; RENIERI, ALESSANDRA; Belligni E; Grosso E; Pieri I; Silengo M; Devescovi R; Greco D; Romano C; Cazzagon M; Simonati A; Al Tawari AA; Bastaki L; Mégarbané A; Sabolic Avramovska V; Said E; Stromme P; Koul R; Rajab A; Azam M; Barbot C; Salih MA; Tabarki B; Jocic Jakubi B; Martorell Sampol L; Rodriguez B; Pascual Castroviejo I; Gener B; Puschmann A; Starck L; Capone A; Lemke J; Fluss J; Niedrist D; Hennekam RC; Wolf N; Gouider Khouja N; Kraoua I; Ceylaner S; Teber S; Akgul M; Anlar B; Comu S; Kayserili H; Yüksel A; Akcakus M; Caglayan AO; Aldemir O; Al Gazali L; Sztriha L; Nicholl D; Woods CG; Bennett C; Hurst J; Sheridan E; Barnicoat A; Hemingway C; Lees M; Wakeling E; Blair E; Bernes S; Sanchez H; Clark AE; DeMarco E; Donahue C; Sherr E; Hahn J; Sanger TD; Gallager TE; Daugherty C; Krishnamoorthy KS; Sarco D; Walsh CA; McKanna T; Milisa J; Chung WK; De Vivo DC; Raynes H; Schubert R; Seward A; Brooks DG; Goldstein A; Caldwell J; Finsecke E; Maria BL; Holden K; Cruse RP; Karaca E; Swoboda KJ; Viskochil D; Dobyns WB; Colin, Johnson; Tania, Attié Bitach; Joseph, G. Gleeson; Enza, Maria Valente
European Journal of Human Genetics
International JSRD Study Group 2013, 'Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders', European Journal of Human Genetics, vol. 21, no. 10, pp. 1074-1078. https://doi.org/10.1038/ejhg.2012.305
European Journal of Human Genetics, Vol. 21, No 10 (2013) pp. 1074-8
Eur J Hum Genet
International JSRD Study Group 2013, 'Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders', European Journal of Human Genetics, vol. 21, no. 10, pp. 1074-1078. https://doi.org/10.1038/ejhg.2012.305
European Journal of Human Genetics, Vol. 21, No 10 (2013) pp. 1074-8
Eur J Hum Genet
Academic Journal
Rachel Goldstein; Natalie Rabkin; Noa Buchman; Aviya R. Jacobs; Khaled Sandouka; Bruria Raccah; Tamar Fisher Negev; Ilan Matok; Meir Bialer; Mordechai Muszkat
CNS Drugs
Academic Journal
Gilad, Yahalom; Yair, Anikster; Ruth, Huna-Baron; Chen, Hoffmann; Lubov, Blumkin; Dorit, Lev; Rakefet, Tsabari; Zeev, Nitsan; Sheera F, Lerman; Bruria, Ben-Zeev; Ben, Pode-Shakked; Shira, Sofer; Avraham, Schweiger; Tally, Lerman-Sagie; Sharon, Hassin-Baer
Journal of Neurology. 261:2275-2282
Academic Journal
Brancati, F.; Travaglini, L.; Zablocka, D.; Boltshauser, E.; Accorsi, P.; Montagna, G.; Silhavy, J. L.; Barrano, G.; Bertini, E.; Emma, F.; Rigoli, L.; Leventer, Richard; Grattan Smith, Padraic; Janecke, Andreas; D'Hooghe, Marc; Van Coster, Rudy; Dias, Karin; Moco, Carla; Moreira, Ana; Kim, Chong Ae; Maegawa, Gustavo; Abdel Salam, Ghada M. H.; Abdel Aleem, Alice; Zaki, Maha S.; Marti, Itxaso; Quijano Roy, Susana; de Lonlay, Pascale; Romano, Stephane; Verloes, Alain; Touraine, Renaud; Koenig, Michel; Lagier Tourenne, Clotilde; Messer, Jean; Philippi, Heike; Tzeli, Sofia Kitsiou; Halldorsson, Saevar; Johannsdottir, Jonina; Ludvigsson, Peter; Phadke, Shubha R.; Stuart, Bernard; Magee, Alex; Lev, Dorit; Michelson, Marina; Ben Zeev, Bruria; Fischetto, Rita; Gentile, Mattia; Battaglia, Silvia; Giordano, Lucio; Pinelli, Lorenzo; Boccone, Loredana; Ruggieri, Martino; Bigoni, Stefania; Ferlini, Alessandra; Donati, Maria Alice; Procopio, Elena; Caridi, Gianluca; Faravelli, Francesca; Ghiggeri, Gianmarco; BRIUGLIA, Silvana; SALPIETRO DAMIANO, Carmelo; Tortorella, Gaetano; D'Arrigo, Stefano; Pantaleoni, Chiara; Riva, Daria; Uziel, Graziella; Laverda, Anna Maria; Permunian, Alberto; Bova, Stefania; Battini, Roberta; Cilio, Maria Roberta; Di Sabato, Marilu; Leuzzi, Vincenzo; Parisi, Pasquale; Simonati, Alessandro; Al Tawari, Asma A.; Bastaki, Laila; Ahmad, Null; de Jong, Mirjam M.; Koul, Roshan; Rajab, Anna; Azam, Matloob; Barbot, Clara; Rodriguez, Berta; Pascual Castroviejo, Ignacio; Kayserili, Hulya; Comu, Sinan; Akcakus, Mustafa; Al Gazali, Lihadh; Sztriha, Laszlo; Nicholl, David; Woods, C. Geoffrey; Bennett, Christopher; Hurst, Jane; Hennekam, Raoul; Lees, Melissa; Bernes, Saunder; Sanchez, Henry; Clark, Aldon E.; Demarco, Elysa; Donahue, Clement; Hahn, Jin; Sanger, Terence D.; Gallager, Tomas E.; Dobyns, William B.; Daugherty, Cynthia; Krishnamoorthy, Kalpathy S.; Sarco, Dean; Walsh, Christopher A.; Mckanna, Trudy; Milisa, Joanne; Chung, Wendy K.; De Vivo, Darryl C.; Raynes, Hillary; Schubert, Romaine; Seward, Alison; Brooks, David G.; Goldstein, Amy; Caldwell, James; Finsecke, Eco; Maria, Bernard L.; Holden, Kenton; Cruse, Robert P.; Swoboda, Kathryn J.; Viskochil, Dave; Dallapiccola, B.; Gleeson, J. G.; Valente, Enza Maria
Clinical Genetics. 74:164-170
Academic Journal
Miora, Feinstein; Hagit, Flusser; Tally, Lerman-Sagie; Bruria, Ben-Zeev; Dorit, Lev; Orly, Agamy; Idan, Cohen; Rotem, Kadir; Sara, Sivan; Esther, Leshinsky-Silver; Barak, Markus; Ohad S, Birk
Journal of Medical Genetics. 51:303-308
Academic Journal
Ruzzo, Elizabeth K. ; Capo-Chichi, José-Mario ; Ben-Zeev, Bruria ; Chitayat, David ; Mao, Hanqian ; Pappas, Andrea L. ; Hitomi, Yuki ; Lu, Yi-Fan ; Yao, Xiaodi ; Hamdan, Fadi F. ; Pelak, Kimberly ; Reznik-Wolf, Haike ; Bar-Joseph, Ifat ; Oz-Levi, Danit ; Lev, Dorit ; Lerman-Sagie, Tally ; Leshinsky-Silver, Esther ; Anikster, Yair ; Ben-Asher, Edna ; Olender, Tsviya ; Colleaux, Laurence ; Décarie, Jean-Claude ; Blaser, Susan ; Banwell, Brenda ; Joshi, Rasesh B. ; He, Xiao-Ping ; Patry, Lysanne ; Silver, Rachel J. ; Dobrzeniecka, Sylvia ; Islam, Mohammad S. ; Hasnat, Abul ; Samuels, Mark E. ; Aryal, Dipendra K. ; Rodriguiz, Ramona M. ; Jiang, Yong-hui ; Wetsel, William C. ; McNamara, James O. ; Rouleau, Guy A. ; Silver, Debra L. ; Lancet, Doron ; Pras, Elon ; Mitchell, Grant A. ; Michaud, Jacques L. ; Goldstein, David B.
In Neuron 16 October 2013 80(2):429-441
Academic Journal
Hirofumi, Kodera; Mitsuhiro, Kato; Alex S, Nord; Tom, Walsh; Ming, Lee; Gaku, Yamanaka; Jun, Tohyama; Kazuyuki, Nakamura; Eiji, Nakagawa; Tae, Ikeda; Bruria, Ben-Zeev; Dorit, Lev; Tally, Lerman-Sagie; Rachel, Straussberg; Saori, Tanabe; Kazutoshi, Ueda; Masano, Amamoto; Sayaka, Ohta; Yutaka, Nonoda; Kiyomi, Nishiyama; Yoshinori, Tsurusaki; Mitsuko, Nakashima; Noriko, Miyake; Kiyoshi, Hayasaka; Mary-Claire, King; Naomichi, Matsumoto; Hirotomo, Saitsu
Epilepsia. 54:1262-1269
Academic Journal
Agamy, Orly; Ben Zeev, Bruria; Lev, Dorit; Marcus, Barak; Fine, Dina; Su, Dan; Narkis, Ginat; Ofir, Rivka; Hoffmann, Chen; Leshinsky-Silver, Esther; Flusser, Hagit; Sivan, Sara; Söll, Dieter; Lerman-Sagie, Tally; Birk, Ohad S.
The American Journal of Human Genetics. 87:538-544
Academic Journal
Marilena, Vered; Dan, Dayan; Alex, Dobriyan; Ran, Yahalom; Bruria, Shalmon; Iris, Barshack; Lev, Bedrin; Yoav P, Talmi; Shlomo, Taicher
Journal of Cancer Research and Clinical Oncology. 136:1039-1048
Academic Journal
Jihad, Bishara; Morad, Wattad; Leonard, Leibovici; Zmira, Samra; Bruria, Lev; Evgeny, Abramson; Mical, Paul
Scandinavian Journal of Infectious Diseases. 41:33-36
Academic Journal
Ingrid, Tein; Orly, Elpeleg; Bruria, Ben-Zeev; Stanley H, Korman; Alexander, Lossos; Dorit, Lev; Tally, Lerman-Sagie; Esther, Leshinsky-Silver; Jerry, Vockley; Gerard T, Berry; Anne-Marie, Lamhonwah; Dietrich, Matern; Charles R, Roe; Niels, Gregersen
Molecular Genetics and Metabolism. 93:179-189
Academic Journal
Brancati Francesco; Barrano Giuseppe; Silhavy Jennifer L.; Marsh Sarah E.; Travaglini Lorena; Bielas Stephanie L.; Amorini Maria; Zablocka Dominika; Kayserili Hulya; Al Gazali Lihadh; Bertini Enrico; Boltshauser Eugen; D'Hooghe Marc; Fazzi Elisa; Fenerci Elif Y.; Hennekam Raoul C. M.; Kiss Andrea; Lees Melissa M.; Marco Elysa; Phadke Shubha R.; RIGOLI Luciana Concetta; Romano Stephane; SALPIETRO DAMIANO Carmelo; Sherr Elliott H.; Signorini Sabrina; Stromme Petter; Stuart Bernard; Sztriha Laszlo; Viskochil David H.; Yuksel Adnan; Dallapiccola Bruno; Grattan Smith Padraic; Leventer Richard; Janecke Andreas; Van Coster Rudy; Dias Karin; Moco Carla; Moreira Ana; Chong Ae Kim; Maegawa Gustavo; Abdel Salam Ghada M. H.; Abdel Aleem Alice; Zaki Maha S.; Marti Itxaso; Quijano Roy Susana; De Lonlay Pascale; Verloes Alain; Touraine Renaud; Koenig Michel; Lagier Tourenne Clotilde; Messer Jean; Philippi Heike; Tzeli Sofia Kitsiou; Halldorsson Saevar; Johannsdottir Jonina; Ludvigsson Peter; Magee Alex; Lev Dorit; Michelson Marina; Ben Zeev Bruria; Fischetto Rita; Gentile Mattia; Battaglia Silvia; Giordano Lucio; Boccone Loredana; Ruggieri Martino; Bigoni Stefania; Ferlini Alessandra; Donati Maria Alice; Procopio Elena; Caridi Gianluca; Faravelli Francesca; Ghiggeri Gianmarco; BRIUGLIA Silvana; Tortorella Gaetano; D'Arrigo Stefano; Pantaleoni Chiara; Riva Daria; Uziel Graziella; Lavercla Anna Maria; Permunian Alberto; Bova Stefania; Battini Roberta; Cilio Maria Roberta; Di Sabato Marilù; Emma Francesco; Leuzzi Vincenzo; Parisi Pasquale; Simonati Alessandro; Al Tawari Asma A.; Bastaki Laila; Aqeel Ahmad; De Jong Mirjam M.; Koul Roshan; Rajab Anna; Azam Matloob; Barbot Clara; Rodriguez Berta; Pascual Castroviejo Ignacio; Comu Sinan; Akcakus Mustafa; Nicholl David; Woods C. Geoffrey; Bennett Christopher; Hurst Jane; Walsh Christopher A.; Bernes Saunder; Sanchez Henry; Clark Aldon E.; Donahue Clement; Hahn Jin; Sanger Terence D.; Gallager Tomas E.; Dobyns William B.; Daugherty Cynthia; Krishnamoorthy Kalpathy S.; Sarco Dean; Mckanna Trudy; Milisa Joanne; Chung Wendy K.; De Vivo Darryl C.; Raynes Hillary; Schubert Romaine; Seward Alison; Brooks David G.; Goldstein Amy; Caldwell James; Finsecke Eco; Maria Bernard L.; Holden Kenton; Cruse Robert P.; Swoboda Kathryn J.; Valente Enza Maria; Gleeson Joseph G.
The American Journal of Human Genetics. 81:104-113
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