학술논문
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'학술논문'
에서 검색결과 219건 | 목록
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Academic Journal
Elbert, Alicia; Vallejos, Augusto; Alvarisqueta, Andres; Maffei, Laura; Juncos, Luis; de Arteaga, Javier; Greloni, Gustavo; Farias, Eduardo; Zucchini, Alfredo; Vogel, Daniel; Cusumano, Ana; Santos, Juan; Fraenkel, Margaret; Gallagher, Martin; Davis, Tim; Acharya, Shamasunder; Cooke, Duncan; Suranyi, Michael; Roger, Simon; Toussaint, Nigel; Pollock, Carol; Chan, Doris; Stranks, Stephen; MacIsaac, Richard; Endre, Zoltan; Schmidt, Alice; Prager, Rudolf; Mayer, Gert; Warling, Xavier; Jadoul, Michel; Hougardy, Jean; Vercammen, Chris; Van Vlem, Bruno; Gillard, Pieter; Costa e Forti, Adriana; Borges, Joao Lindolfo; Santos Canani, Luis; Eliaschewitz, Freddy; Leite, Silmara; Fraige Filho, Fadlo; Paschoalin, Raphael; Moura Neto, Jose Andrade; Deboni, Luciane; de Lourdes Noronha, Irene; Cercato, Cintia; Prompt, Carlos Alberto; Zanella, Maria; Rassi, Nelson; D'Avila, Domingos; Milagres, Rosangela; Felicio, Joao; Pecoits Filho, Roberto; Riella, Miguel Carlos; Salles, Joao; Keitel, Elizete; Draibe, Sergio; Amodeo, Celso; Youmbissi, Joseph; Roy, Louise; Cournoyer, Serge; Jolly, Shivinder; Pichette, Vincent; Nesrallah, Gihad; Bajaj, Harpreet Singh; Khandwala, Hasnain; Aronson, Ronnie; Goluch, Richard; Tam, Paul; Rabbat, Christian; Tobe, Sheldon; Bailey, Gordon; Chow, Stephen; Castillo, Alvaro; Danin Vargas, Alfredo; Gonzalez, Fernando; Munoz, Rodrigo; Gutierrez, Vicente; Godoy, Gonzalo; Zhao, Hongwen; Liu, Zhangsuo; Zhao, Minghui; Guo, Xiaohui; Su, Benli; Fu, Shuxia; Xu, Yan; Yang, Jinkui; Shi, Bingyin; Xiao, Guanqing; Shi, Wei; Hao, Chuanming; Xing, Changying; Hou, Fanfan; Luo, Qun; Li, Yuxiu; Ji, Linong; Zuo, Li; Wang, Song; Ni, Zhaohui; Ding, Guohua; Chen, Nan; Zhao, Jiajun; Jia, Weiping; Yu, Shengqiang; Weng, Jian; Xu, Gang; Fu, Ping; Sun, Shiren; Liu, Bicheng; Ding, Xiaoqiang; Rychlik, Ivan; Oplustilova, Alexandra; Bartaskova, Dagmar; Honova, Vaclava; Chmelickova, Hana; Petr, Martin; Bucek, Petr; Tesar, Vladimir; Zahumensky, Emil; Povlsen, Johan; Egstrup, Kenneth; Oczachowska-Kulik, Anna; Rossing, Peter; Lahtela, Jorma; Strand, Jorma; Kantola, Ilkka; Petit, Catherine; Combe, Christian; Zaoui, Philippe; Esnault, Vincent; Urena Torres, Pablo; Halimi, Jean-Michel; Dussol, Bertrand; Bieler, Tasso; Budde, Klemens; Dellanna, Frank; Segiet, Thomas; Kosch, Christine; Schmidt-Guertler, Hans; Schenkenberger, Isabelle; Vielhauer, Volker; Pistrosch, Frank; Alscher, Mark; Hasslacher, Christoph; Hugo, Christian; Muehlfeld, Anja; Wanner, Christoph; Passadakis, Ploumis; Apostolou, Theofanis; Tentolouris, Nikolaos; Stefanidis, Ioannis; Mavromatidis, Konstantinos; Liakopoulos, Vasilios; Goumenos, Dimitrios; Siamopoulos, Konstantinos; Yeung, Vincent; Ozaki, Risa; Fung, Samuel; Tan, Kathryn; Tang, Sydney; Lui, Sing Leung; Cheung, Siu Fai; Sreenan, Seamus; Eustace, Joseph; O'Shea, Donal; Lavin, Peter; Stack, Austin; Yagil, Yoram; Wainstein, Julio; Knobler, Hilla; Cohen, Josef; Kenis, Irina; Daoud, Deeb; Bar-Dayan, Yosefa; Frajewicki, Victor; Adawi, Faiad; Gesualdo, Loreto; Santoro, Domenico; Marino, Francesco; Galfre, Andrea; Brunati, Chiara; Ruggenenti, Piero; Rombola, Giuseppe; Pugliese, Giuseppe; Ravera, Maura; Malberti, Fabio; Pontoriero, Giuseppe; Rampino, Teresa; De Cosmo, Salvatore; Esposito, Ciro; Nappi, Felice; Abaterusso, Cataldo; Conte, Giuseppe; Panichi, Vincenzo; Lauro, Davide; Capasso, Giovambattista; Russo, Domenico; Anzai, Jiichi; Naka, Motoji; Ato, Keita; Tsujimoto, Tetsuro; Nimura, Toshinori; Nakashima, Eitaro; Takeda, Tetsuro; Fujii, Shinya; Kobayashi, Kunihisa; Iwaoka, Hideaki; Nagayama, Koji; Harada, Hiroyuki; Maeda, Hajime; Kishimoto, Rui; Iitsuka, Tadashi; Itabashi, Naoki; Furuya, Ryuichi; Maeda, Yoshitaka; Yamada, Daishiro; Sasaki, Nobuhiro; Sasaki, Hiromitsu; Ueda, Shinichiro; Kashihara, Naoki; Watanabe, Shuichi; Nakamura, Takehiro; Kanai, Hidetoshi; Makita, Yuichiro; Ono, Keiko; Iehara, Noriyuki; Goto, Daisuke; Kosuge, Keiichiro; Tsuchida, Kenichi; Sato, Toshiaki; Sekikawa, Takashi; Okamoto, Hideki; Tanaka, Tsuyoshi; Ikeda, Naoko; Tadika, Takenobu; Mukasa, Koji; Osonoi, Takeshi; Hirano, Fuminori; Nishimura, Motonobu; Yambe, Yuko; Tanaka, Yukio; Ujihara, Makoto; Sakai, Takashi; Imura, Mitsuo; Umayahara, Yutaka; Makino, Shinya; Nakazawa, Jun; Yamaguchi, Yukinari; Kashine, Susumu; Miyaoka, Hiroaki; Suzuki, Katsunori; Inoue, Toshihiko; Nagai, Sou; Sato, Nobuyuki; Yamamoto, Masahiro; Taya, Noriyasu; Fujita, Akira; Matsutani, Akira; Shibagaki, Yugo; Sato, Yuichi; Yamauchi, Akira; Tsutsui, Masahiro; Ishiko, Tamayo; Kaneko, Shizuka; Azuma, Nobuyuki; Matsuda, Hirofumi; Hashiguchi, Yasuhiro; Onishi, Yukiko; Tokui, Mikiya; Matsuhisa, Munehide; Kiyosue, Arihiro; Shinoda, Junji; Ishikawa, Kazuo; Ahmad, Ghazali; Vijayasingham, Shalini; Aziz, Nor Azizah; Hussein, Zanariah; Fung, Yin Khet; Hassan, Wan Hasnul Halimi Wan; Wong, Hin Seng; Goh, Bak Leong; Ali, Norhaliza Mohd; Merican, Nor Shaffinaz Yusuf Azmi; Vaithilingam, Indralingam; Nik Ahmad, Nik Nur Fatnoon; Adam, Noor; Sukor, Norlela; Vengadasalam, V Paranthaman P; Abdul Kadir, Khalid; Mohamed, Mafauzy; Renoirte Lopez, Karina; Leguizamo-Dimas, Aniceto; Chew Wong, Alfredo; Chevaile-Ramos, Jose; Gonzalez Gonzalez, Jose; Rico Hernandez, Raul; Nino-Cruz, Jose; Sauque Reyna, Leobardo; Gonzalez-Galvez, Guillermo; Madero Rovalo, Magdalena; Bochicchio-Ricardelli, Tomasso; Aldrete, Jorge; Carranza-Madrigal, Jaime; Vogt, Liffert; Smak Gregoor, Peter; Barendregt, JNM; Luik, Peter; Gansevoort, Ronald; Laverman, Gozewijn; Pilmore, Helen; Lunt, Helen; Baker, John; Miller, Steven; Rabindranath, Kannaiyan; Zapata-Rincon, Luis; Vargas-Gonzales, Rolando; Calderon Ticona, Jorge; Dextre Espinoza, Augusto; Burga Nunez, Jose; Zea-Nunez, Carlos Antonio; Herrada Orue, Benjamin; Medina-Santander, Boris; Delgado-Butron, Cesar; Farfan-Aspilcueta, Julio; Mazur, Stanislaw; Necki, Miroslaw; Wruk, Michal; Klodawska, Katarzyna; Popenda, Grazyna; Skokowska, Ewa; Arciszewska, Malgorzata; Wiecek, Andrzej; Ciechanowski, Kazimierz; Nowicki, Michal; Birne, Rita; Cabrita, Antonio; Ramos, Aura; Antunes Ferreira, Manuel Anibal; Matta Fontanet, Evelyn; Alcantara-Gonzalez, Altagracia Aurora; Comulada-Rivera, Angel; Galindo Ramos, Eugenia; Cangiano, Jose; Quesada-Suarez, Luis; Calderon Ortiz, Ricardo; Vazquez-Tanus, Jose; Burgos-Calderon, Rafael; Rosado, Carlos; Hancu, Nicolae; Pintilei, Ella; Mistodie, Cristina; Bako, Gabriel; Ionutiu, Lavinia; Petrica, Ligia; Timar, Romulus; Tuta, Liliana; Duma, Livia; Tutescu, Adriana; Ivanova, Svetlana; Essaian, Ashot; Zrazhevskiy, Konstantin; Tomilina, Natalia; Smolyarchuk, Elena; Kuzin, Anatoly; Lantseva, Olga; Karpova, Irina; Shamkhalova, Minara; Liberanskaya, Natalia; Yavdosyuk, Andrey; Shvarts, Yuri; Bardymova, Tatiana; Blagoveshchenskaya, Olga; Solovev, Oleg; Rechkova, Elena; Pikalova, Natalia; Pavlova, Maria; Kolmakova, Elena; Sayfutdinov, Rustam; Villevalde, Svetlana; Koziolova, Natalya; Martynenko, Vladimir; Marasaev, Vyacheslav; Maksudova, Adelya; Sigitova, Olga; Mordovin, Viktor; Klimontov, Vadim; Samoylova, Yulia; Karonova, Tatiana; Yeoh, Lee Ying; Teo, Boon Wee; Foo, Marjorie Wai Yin; Liew, Adrian; Tkac, Ivan; Oroszova, Aniko; Fekete, Jozef; Rosenberger, Jaroslav; Obetkova, Ida; Fulopova, Alla; Kolesarova, Eva; Raslova, Katarina; Smolko, Peter; Oksa, Adrian; Distiller, Larry; Trokis, Julien; Adams, Luthando; Makan, Hemant; Ramlachan, Padaruth; Mitha, Essack; Coetzee, Kathleen; Punt, Zelda; Bhorat, Qasim; Naiker, Puvenesvari; Ellis, Graham; Van Zyl, Louis; Lee, Kwan Woo; Kim, Min Seon; Yoo, Soon-Jib; Yoon, Kun Ho; Cho, Yong-Wook; Park, Tae-Sun; Kim, Sang Yong; Choi, Moon-Gi; Oh, Tae Keun; Lee, Kang-Wook; Shon, Ho Sang; Suh, Sung Hwan; Kim, Byung-Joon; Doo-Man, Kim; Yi, Joo Hark; Lee, Sang Ah; Cho, Ho Chan; Kim, Sin-Gon; Cha, Dae-Ryong; Seo, Ji A; Choi, Kyung Mook; Woo, Jeong-Taek; Ahn, Kyu Jeung; Lee, Jae Hyuk; Kim, In-Joo; Lee, Moon-Kyu; Jang, Hak Chul; Park, Kyong-Soo; Kim, Beom Seok; Mok, Ji Oh; Shin, Mijung; Yoon, Sun Ae; Nam-Goong, Il-Seong; Chung, Choon Hee; Yu, Tae Yang; Lee, Hyoung Woo; Soto Gonzalez, Alfonso; Almirall, Jaume; Egido, Jesus; Calero Gonzalez, Francesca; Fernandez Fresnedo, Gema; Valera Cortes, Ildefonso; Praga Terente, Manuel; Garcia Mendez, Isabel; Navarro Gonzalez, Juan; Herrero Calvo, Jose; Cigarran Guldris, Secundino; Prieto Velasco, Mario; Minguela Pesquera, Jose Ignacio; Galan, Antonio; Pascual, Julio; Marques Vidas, Maria; Martins Munoz, Judith; Rodriguez-Perez, Jose; Castro-Alonso, Cristina; Bonet Sol, Josep; Seron, Daniel; Fernandez Giraldez, Elvira; Arrieta Lezama, Javier; Montero, Nuria; Hernandez-Jaras, Julio; Santamaria Olmo, Rafael; Molas Coten, Jose Ramon; Hellberg, Olof; Fellstrom, Bengt; Bock, Andreas; Pei, Dee; Lin, Ching-Ling; Tien, Kai-Jen; Chen, Ching-Chu; Huang, Chien-Ning; Jiang, Ju-Ying; Wu, Du-An; Chu, Chih-Hsun; Tseng, Shih-Ting; Chen, Jung-Fu; Bau, Cho-Tsan; Sheu, Wayne; Wu, Mai-Szu; Sari, Ramazan; Sezer, Siren; Yildiz, Alaattin; Satman, Ilhan; Kalender, Betul; Mankovskyy, Borys; Fushtey, Ivan; Stanislavchuk, Mykola; Kolenyk, Mykola; Dudar, Iryna; Zolotaikina, Viktoriia; Abrahamovych, Orest; Kostynenko, Tetyana; Petrosyan, Olena; Kuskalo, Petro; Galushchak, Olga; Legun, Oleg; Topchii, Ivan; Martynyuk, Liliya; Stryzhak, Vasyl; Panina, Svitlana; Tkach, Sergii; Korpachev, Vadym; Maxwell, Peter; Gnudi, Luigi; Kon, Sui Phin; Tindall, Hilary; Kalra, Phillip; Mark, Patrick; Patel, Dipesh; El-Shahawy, Mohamed; Bai, Liqun; Nica, Romanita; Lien, Yeong-Hau; Menefee, Judson; Busch, Robert; Miller, Alan; Ahmed, Azazuddin; Arif, Ahmed; Lee, Joseph; Desai, Sachin; Bansal, Shweta; Bentsianov, Marie; Belledonne, Mario; Jere, Charles; Gaona, Raul; Greenwood, Gregory; Brusco, Osvaldo; Boiskin, Mark; Belo, Diogo; Minasian, Raffi; Atray, Naveen; Lawrence, Mary; Taliercio, John; Pergola, Pablo; Scott, David; Alvarez, German; Marder, Bradley; Powell, Thomas; Bakdash, Wa'el; Stoica, George; McFadden, Christopher; Rendell, Marc; Wise, Jonathan; Jones, Audrey; Jardula, Michael; Madu, Ivy-Joan; Varghese, Freemu; Tulloch, Brian; Ahmed, Ziauddin; Hames, Melanie; Nazeer, Imran; Shahid, Newman; John, Rekha; Montero, Manuel; Fitz-Patrick, David; Phillips, Lawrence; Guasch, Antonio; Christofides, Elena; Gundroo, Aijaz; Amin, Mohammad; Bowman-Stroud, Cynthia; Link, Michael; Mulloy, Laura; Nammour, Michael; Lalwani, Tarik; Hanson, Lenita; Whaley-Connell, Adam; Herman, Lee; Chatha, Rupi; Osama, Sayed; Liss, Kenneth; Kayali, Zeid; Bhargava, Anuj; Israel, Ezra; Peguero-Rivera, Alfredo; Fang, Michael; Slover, Judith; Barengolts, Elena; Flores, Jose; Muoneke, Rosemary; Savin, Virginia; Awua-Larbi, Stella; Levine, Andrew; Newman, George; Golestaneh, Laden; Bohm, Guillermo; Reisin, Efrain; Cruz, Lucita; Weiss, Robert; Zieve, Franklin; Horwitz, Edward; Chuang, Peale; Mersey, James; Manley, John; Graf, Ronald; Bedros, Fadi; Joshi, Sudhir; Frias, Juan; Assefi, Ali; O'Shaughnessy, Andrew; Brantley, Roman; Minga, Todd; Tietjen, David; Kantor, Samuel; Jamal, Aamir; Guadiz, Ramon; Hershon, Kenneth; Bressler, Peter; Kopyt, Nelson; Cathcart, Harold; Bloom, Scott; Reichel, Ronald; Nakhle, Samer; Dulude, Emily; Tarkan, Joshua; Baker, Penelope; Zeig, Steven; Moya Hechevarria, Jaynier; Ropero-Cartier, Armando; De la Calle, Gilda; Doshi, Ankur; Saba, Fadi; Sligh, Teresa; Shaw, Sylvia; Kumar, Jayant; Szerlip, Harold; Bayliss, George; Perlman, Alan; Sakhrani, Lakhi; Gouge, Steven; Argoud, Georges; Acosta, Idalia; Elder, John; Joshi, Sucharit; Sensenbrenner, John; Vicks, Steven; Mangoo-Karim, Roberto; Galphin, Claude; Leon-Forero, Carlos; Gilbert, John; Brown, Eric; Ijaz, Adeel; Butt, Salman; Markell, Mariana; Arauz-Pacheco, Carlos; Sloan, Lance; Alvarado, Odilon; Jabbour, Serge; Simon, Eric; Rastogi, Anjay; James, Sam; Bakris, George; Hall, Karen; Melish, John; Dixon, Brad; Adolphe, Allen; Kovesdy, Csaba; Beddhu, Srinivasan; Solomon, Richard; Fernando, Ronald; Levin, Ellis; Thakar, Charuhas; Robey, Brooks; Goldfarb, David; Fried, Linda; Maddukuri, Geetha; Thomson, Stephen; Annand, Andrew; Kronfli, Saeed; Kalirao, Paramjit; Schmidt, Rebecca; Dahl, Neera; Blumenthal, Samuel; Weinstein, Debra; Ostergaard, Ove; Weinstein, Talia; Ono, Yasuhiro; Yalcin, Murat; Karim, Shahana; Heerspink, Hiddo J L ; Parving, Hans-Henrik ; Andress, Dennis L ; Correa-Rotter, Ricardo ; Hou, Fan-Fan ; Kitzman, Dalane W ; Kohan, Donald ; Makino, Hirofumi ; McMurray, John J V ; Melnick, Joel Z ; Miller, Michael G ; Pergola, Pablo E ; Perkovic, Vlado ; Yi, Tingting ; Wigderson, Melissa ; de Zeeuw, Dick
In The Lancet 11-17 May 2019 393(10184):1937-1947
Academic Journal
Samuel F. Berkovic 1; Karen L. Oliver 1; Laura Canafoglia 2; Penina Krieger 1; John A. Damiano 1; Michael S. Hildebrand 1; Michela Morbin 3; Danya F. Vears 1; Vito Sofia 4; Loretta Giuliano 4; Barbara Garavaglia 5; Alessandro Simonati 6; Filippo M. Santorelli 7; Antonio Gambardella 8; Angelo Labate 8; Vincenzo Belcastro 9; Barbara Castellotti 10; Cigdem Ozkara 11; Adam Zeman 12; Julia Rankin 13; Sara E. Mole 14; Umberto Aguglia 15; Michael Farrell 17; Sulekha Rajagopalan 18; Alan McDougall 19; Susan Brammah 20; Frederick Andermann 21; Eva Andermann 21; Hans-Henrik M. Dahl 1; Silvana Franceschetti 2; Stirling Carpenter 23
Brain (Online) 142 (2019): 59–69. doi:10.1093/brain/awy297
info:cnr-pdr/source/autori:Samuel F. Berkovic 1, Karen L. Oliver 1, Laura Canafoglia 2, Penina Krieger 1, John A. Damiano 1, Michael S. Hildebrand 1, Michela Morbin 3,* Danya F. Vears 1, Vito Sofia 4, Loretta Giuliano 4, Barbara Garavaglia 5, Alessandro Simonati 6, FilippoM . Santorelli 7, Antonio Gambardella 8, Angelo Labate 8, Vincenzo Belcastro 9, Barbara Castellotti 10, Cigdem Ozkara 11, Adam Zeman 12, Julia Rankin 13, Sara E. Mole 14, Umberto Aguglia 15,16, Michael Farrell 17, Sulekha Rajagopalan 18, Alan McDougall 19, Susan Brammah 20, Frederick Andermann 21,22, Eva Andermann 21,22, Hans -Henrik M . Dahl 1, Silvana Franceschetti 2 and Stirling Carpenter 23/titolo:Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features./doi:10.1093%2Fbrain%2Fawy297/rivista:Brain (Online)/anno:2019/pagina_da:59/pagina_a:69/intervallo_pagine:59–69/volume:142
info:cnr-pdr/source/autori:Samuel F. Berkovic 1, Karen L. Oliver 1, Laura Canafoglia 2, Penina Krieger 1, John A. Damiano 1, Michael S. Hildebrand 1, Michela Morbin 3,* Danya F. Vears 1, Vito Sofia 4, Loretta Giuliano 4, Barbara Garavaglia 5, Alessandro Simonati 6, Filippo
Academic Journal
Eva M. Reinthaler; Dennis Lal; Sebastien Lebon; Michael S. Hildebrand; Hans-Henrik M. Dahl; Brigid M. Regan; Martha Feucht; Hannelore Steinböck; Birgit Neophytou; Gabriel M. Ronen; Laurian Roche; Ursula Gruber-Sedlmayr; Julia Geldner; Edda Haberlandt; Per Hoffmann; Stefan Herms; Christian Gieger; Melanie Waldenberger; Andre Franke; Michael Wittig; Susanne Schoch; Albert J. Becker; Andreas Hahn; Katrin Männik; Mohammad R. Toliat; Georg Winterer; Holger Lerche; Peter Nürnberg; Heather Mefford; Ingrid E. Scheffer; Samuel F. Berkovic; Jacques S. Beckmann; Thomas Sander; Sebastien Jacquemont; Alexandre Reymond; Fritz Zimprich; Bernd A. Neubauer; Bernd Neubauer; Martina Mörzinger; Arvid Suls; Sarah Weckhuysen; Lieve Claes; Liesbet Deprez; Katrien Smets; Tine Van Dyck; Tine Deconinck; Peter De Jonghe; Rikke S Møller; Laura L. Klitten; Helle Hjalgrim; Kiel Campus; Ingo Helbig; Hiltrud Muhle; Philipp Ostertag; Sarah von Spiczak; Ulrich Stephani; Holger Trucks; Christian E. Elger; Ailing A. Kleefuß-Lie; Wolfram S. Kunz; Rainer Surges; Verena Gaus; Dieter Janz; Bettina Schmitz; Felix Rosenow; Karl Martin Klein; Philipp S. Reif; Wolfgang H. Oertel; Hajo M. Hamer; Felicitas Becker; Yvonne Weber; Bobby P.C. Koeleman; Carolien de Kovel; Dick Lindhout; Agnès Ameil; Joris Andrieux; Sonia Bouquillon; Odile Boute; Jeanne de Flandre; Jean Marie Cuisset; Jean-Christophe Cuvellier; Roger Salengro; Albert David; Bert de Vries; Marie-Ange Delrue; Martine Doco-Fenzy; Bridget A. Fernandez; Delphine Heron; Boris Keren; Robert Lebel; Bruno Leheup; Suzanne Lewis; Maria Antonietta Mencarelli; Cyril Mignot; Jean-Claude Minet; Alexandre Moerman; Fanny Morice-Picard; Mafalda Mucciolo; Katrin Ounap; Laurent Pasquier; Florence Petit; Francesca Ragona; Evica Rajcan-Separovic; Alessandra Renieri; Claudine Rieubland; Damien Sanlaville; Elisabeth Sarrazin; Yiping Shen; Mieke van Haelst; Anneke Vulto-van Silfhout
16p11.2 European Consortium, EPICURE Consortium, The EuroEPINOMICS Consortium & Møller, R S 2014, ' 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy ', Human Molecular Genetics, vol. 23, no. 22, pp. 6069-6080 . https://doi.org/10.1093/hmg/ddu306
Reinthaler, EvaM ; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S; Dahl , Hans -Henrik M ; Regan, Brigid M ; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M ; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; ... (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human molecular genetics, 23(22), pp. 6069-6080. Oxford University Press 10.1093/hmg/ddu306
HUMAN MOLECULAR GENETICS
Human molecular genetics
Reinthaler, Eva
HUMAN MOLECULAR GENETICS
Human molecular genetics
Academic Journal
Samuel F. Berkovic; John F. Staropoli; Stirling Carpenter; Karen L. Oliver; Stanislav Kmoch; Glenn W. Anderson; John A. Damiano; Michael S. Hildebrand; Katherine B. Sims; Susan L. Cotman; Melanie Bahlo; Katherine R. Smith; Maxime Cadieux-Dion; Patrick Cossette; Ivana Jedličková; Anna Přistoupilová; Sara E. Mole; Umberto Aguglia; Danielle M Andrade; Francesca Bisulli; Sylvia Boesch; Laura Canafoglia; Hans-Henrik M Dahl; Rainer Ehling; Silvana Franceschetti; Antonio Gambardella; Michael F Gonzales; Renate Kalnins; Anthony Lang; Eliza Lewandowska; Laura Licchetta; Tiago A Mestre; Michela Morbin; Chantal F Morel; Klary E Niezen-Koning; Filippo M Santorelli; Alessandro Simonati; Paolo Tinuper
Neurology. 87:579-584
Academic Journal
Damiano, John A.; Mullen, Saul A.; Hildebrand, Michael S.; Bellows, Susannah T.; Lawrence, Kate M.; Arsov, Todor; Dibbens, Leanne; Major, Heather; Dahl, Hans-Henrik M.; Mefford, Heather C.; Darbro, Benjamin W.; Scheffer, Ingrid E.; Berkovic, Samuel F.
Epilepsy Research. 117:70-73
Academic Journal
John A, Damiano; Zaid, Afawi; Melanie, Bahlo; Monika, Mauermann; Adel, Misk; Todor, Arsov; Karen L, Oliver; Hans-Henrik M, Dahl; A Eliot, Shearer; Richard J H, Smith; Nathan E, Hall; Khalid, Mahmood; Richard J, Leventer; Ingrid E, Scheffer; Mikko, Muona; Anna-Elina, Lehesjoki; Amos D, Korczyn; Harald, Herrmann; Samuel F, Berkovic; Michael S, Hildebrand
Human Molecular Genetics. 24:4483-4490
Academic Journal
Hearing Research. 299:53-62
Academic Journal
The American Journal of Pathology. 180:1560-1569
Academic Journal
Manji, Shehnaaz S M; Miller, Kerry A; Williams, Louise H; Andreasen, Lotte; Siboe, Maria; Rose, Elizabeth; Bahlo, Melanie; Kuiper, Michael; Dahl, Hans-Henrik M
Manji, S S M , Miller, K A, Williams, L H, Andreasen, L, Siboe, M , Rose, E, Bahlo, M , Kuiper, M & Dahl , H-H M 2011, 'An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice', The American Journal of Pathology, vol. 179, no. 2, pp. 903-14. https://doi.org/10.1016/j.ajpath.2011.04.002
Academic Journal
Hitomi, Yuki; Heinzen, Erin L; Donatello, Simona; Dahl, Hans-Henrik; Damiano, John A.; McMahon, Jacinta M.; Berkovic, Samuel F; Scheffer, Ingrid E; Legros, Benjamin; Rai, Myriam; Weckhuysen, Sarah; Suls, Arvid; de Jonghe, Peter; Pandolfo, Massimo; Goldstein, David B; Van Bogaert, Patrick; Depondt, Chantal
Annals of Neurology. 74:496-501
Academic Journal
Sugiana, Canny.; Pagliarini, David J.; McKenzie, Matthew.; Denise M, Kirby.; Salemi, R.; Abu-Amero, Khaled K.; Dahl, Hans-Henrik M.; Hutchison, Wendy M.; Vascotto, Katherine A.; Smith, Stacey M.; Newbold, Robert F.; Christodoulou, John.; Calvo, Sarah.; Mootha, Vamsi K.; Ryan, Michael Thomas.; Thornburn, D.
The American Journal of Human Genetics. 83:468-478
Academic Journal
Michael S, Hildebrand; Hans-Henrik M, Dahl; John Anthony, Damiano; Richard J H, Smith; Ingrid E, Scheffer; Samuel F, Berkovic
Journal of Medical Genetics. 50:271-279
Academic Journal
Hildebrand, Michael S; Newton, Stephen S; Gubbels, Samuel P; Sheffield, Abraham M; Kochhar, Amit; de Silva, Michelle G; Dahl, Hans-Henrik M; Rose, Scott D; Behlke, Mark A; Smith, Richard JH
Molecular Therapy. 16:224-236
Academic Journal
Michael S, Hildebrand; Michelle G, de Silva; Tiong Yang, Tan; Elizabeth, Rose; Carla, Nishimura; Tanya, Tolmachova; Joanne M, Hulett; Susan M, White; Jeremy, Silver; Melanie, Bahlo; Richard J H, Smith; Hans-Henrik M, Dahl
American Journal of Medical Genetics Part A. :2564-2575
Academic Journal
Kirby, Siemering; Shehnaaz S M, Manji; Wendy M, Hutchison; Desiree, Du Sart; Dean, Phelan; Hans-Henrik M, Dahl
The Journal of Molecular Diagnostics. 8:483-489
Academic Journal
Genetic Testing and Molecular Biomarkers. 15:365-368
Academic Journal
American Journal of Medical Genetics Part A. :2236-2241
Academic Journal
Hildebrand, Michael S.; Coman, David; Yang, Tao; Gardner, R.J. McKinlay; Rose, Elizabeth; Smith, Richard J.H.; Bahlo, Melanie; Dahl, Hans-Henrik M.
American Journal of Medical Genetics Part A. :1599-1604
Academic Journal
Michael S, Hildebrand; Michelle G, de Silva; Tuomas, Klockars; Colleen A, Campbell; Richard J H, Smith; Hans-Henrik M, Dahl
Hearing Research. 225:1-10
Academic Journal
Michael S, Hildebrand; Michelle G, de Silva; R J McKinlay, Gardner; Elizabeth, Rose; Carolyn A, de Graaf; Melanie, Bahlo; Hans-Henrik M, Dahl
The Laryngoscope. 116:2211-2215
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[검색어] Dahl, Hans-Henrik M.
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