학술논문
'학술논문'
에서 검색결과 146건 | 목록
20~30
Periodical
Lochmüller, Hanns; Torrent i Farnell, Josep; Le Cam, Yann; Jonker, Anneliene; Lau, Lilian; Baynam, Gareth; Kaufmann, Petra; Dawkins, Hugh; Lasko, Paul; Austin, Christopher; Boycott, Kym
European Journal of Human Genetics: EJHG; December 2017, Vol. 25 Issue: 12 p1293-1302, 10p
Periodical
Koeks, Zaïda; Bladen, Catherine L.; Salgado, David; van Zwet, Erik; Pogoryelova, Oksana; McMacken, Grace; Monges, Soledad; Foncuberta, Maria E.; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Bellgard, Matthew I.; Roy, Anna J.; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lähdetie, Jaana; Walter, Maggie C.; Schreiber-Katz, Olivia; Karcagi, Veronika; Garami, Marta; Herczegfalvi, Agnes; Viswanathan, Venkatarman; Bayat, Farhad; Buccella, Filippo; Ferlini, Alessandra; Kimura, En; van den Bergen, Janneke C.; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Santos, Rosário; Neagu, Elena; Artemieva, Svetlana; Rasic, Vedrana Milic; Vojinovic, Dina; Posada, Manuel; Bloetzer, Clemens; Klein, Andrea; Díaz-Manera, Jordi; Gallardo, Eduard; Karaduman, A. Ayşe; Oznur, Tunca; Topaloğlu, Haluk; El Sherif, Rasha; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly L.; Kirschner, Jan; Flanigan, Kevin M.; Straub, Volker; Bushby, Kate; Béroud, Christophe; Verschuuren, Jan J.; Lochmüller, Hanns
Journal of Neuromuscular Diseases; November 2017, Vol. 4 Issue: 4 p293-306, 14p
Periodical
Law, Chi Kin; Cust, Anne E.; Smit, Amelia K.; Trevena, Lyndal; Fernandez-Penas, Pablo; Nieweg, Omgo E.; Menzies, Alexander M.; Wordsworth, Sarah; Morton, Rachael L.; Newson, Ainsley J.; Morton, Rachael L.; Kimlin, Michael; Keogh, Louise; Law, Matthew; Kirk, Judy; Dobbinson, Suzanne J.; Kanetsky, Peter; Mann, Graham; Dawkins, Hugh; Savard, Jacqueline; Dunlop, Kate; Trevena, Lyndal; Jenkins, Mark; Allen, Martin; Butow, Phyllis; Wordsworth, Sarah; Lo, Serigne; Low, Cynthia; Smit, Amelia K.; Espinoza, David; Cust, Anne E.
Genetics in Medicine; 20230101, Issue: Preprints
Hansson, Mats G.; Lochmuller, Hanns; Riess, Olaf; Schaefer, Franz; Orth, Michael; Rubinstein, Yaffa; Molster, Caron; Dawkins, Hugh; Taruscio, Domenica; Posada, Manuel; Woods, Simon
European Journal of Human Genetics. 24(11):1553-1558
Academic Journal
Baynam, Gareth; Overkov, Angela; Davis, Mark; Mina, Kym; Schofield, Lyn; Allcock, Richard; Laing, Nigel; Cook, Matthew; Dawkins, Hugh; Goldblatt, Jack
American Journal Of Medical Genetics - A. Jul 01, 2015 167(7):1659-1667
Academic Journal
Baynam, Gareth; Walters, Mark; Claes, Peter; Kung, Stefanie; LeSouef, Peter; Dawkins, Hugh; Bellgard, Matthew; Girdea, Marta; Brudno, Michael; Robinson, Peter; Zankl, Andreas; Groza, Tudor; Gillett, David; Goldblatt, Jack
Journal of Paediatrics and Child Health. Apr 01, 2015 51(4):381-386
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Academic Journal
Bladen, Catherine L.; Salgado, David; Monges, Soledad; Foncuberta, Maria E.; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J.; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C.; Schreiber-Katz, Olivia; Karcagi, Veronika; Garami, Marta; Viswanathan, Venkatarman; Bayat, Farhad; Buccella, Filippo; Kimura, En; Koeks, Zaïda; van den Bergen, Janneke C.; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Zimowski, Janusz; Santos, Rosário; Neagu, Elena; Artemieva, Svetlana; Rasic, Vedrana Milic; Vojinovic, Dina; Posada, Manuel; Bloetzer, Clemens; Jeannet, Pierre-Yves; Joncourt, Franziska; Díaz-Manera, Jordi; Gallardo, Eduard; Karaduman, Ayşe A.; Topaloğlu, Haluk; El Sherif, Rasha; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly L.; Bellgard, Matthew I.; Kirschner, Jan; Flanigan, Kevin M.; Straub, Volker; Bushby, Kate; Verschuuren, Jan; Aartsma-Rus, Annemieke; Béroud, Christophe; Lochmüller, Hanns
Human Mutation. Apr 01, 2015 36(4):395-402
Academic Journal
Thompson, Rachel; Johnston, Louise; Taruscio, Domenica; Monaco, Lucia; Béroud, Christophe; Gut, Ivo; Hansson, Mats; 't Hoen, Peter-Bram; Patrinos, George; Dawkins, Hugh; Ensini, Monica; Zatloukal, Kurt; Koubi, David; Heslop, Emma; Paschall, Justin; Posada, Manuel; Robinson, Peter; Bushby, Kate; Lochmüller, Hanns
Academic Journal
Bladen, Catherine L.; Rafferty, Karen; Straub, Volker; Monges, Soledad; Moresco, Angélica; Dawkins, Hugh; Roy, Anna; Chamova, Teodora; Guergueltcheva, Velina; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Barišić, Nina; Kos, Tea; Brabec, Petr; Rahbek, Jes; Lahdetie, Jaana; Tuffery-Giraud, Sylvie; Claustres, Mireille; Leturcq, France; Ben Yaou, Rabah; Walter, Maggie C.; Schreiber, Olivia; Karcagi, Veronika; Herczegfalvi, Agnes; Viswanathan, Venkatarman; Bayat, Farhad; de la caridad Guerrero Sarmiento, Isis; Ambrosini, Anna; Ceradini, Francesca; Kimura, En; van den Bergen, Janneke C.; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Oliveira, Jorge; Santos, Rosário; Neagu, Elena; Butoianu, Niculina; Artemieva, Svetlana; Rasic, Vedrana Milic; Posada, Manuel; Palau, Francesc; Lindvall, Björn; Bloetzer, Clemens; Karaduman, Ayşe; Topaloğlu, Haluk; Inal, Serap; Oflazer, Piraye; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly; Flanigan, Kevin M.; Salgado, David; von Rekowski, Brigitta; Lynn, Stephen; Heslop, Emma; Gainotti, Sabina; Taruscio, Domenica; Kirschner, Jan; Verschuuren, Jan; Bushby, Kate; Béroud, Christophe; Lochmüller, Hanns
Human Mutation. Nov 01, 2013 34(11):1449-1457
Academic Journal
Molster, Caron; Potts, Ayla; McNamara, Beverley; Youngs, Leanne; Maxwell, Susannah; Dawkins, Hugh; O'Leary, Peter
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