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Преглед према Аутор Straub, Volker

Приказ резултата 1 до 5 од 5
ГодинаНасловАутор(и)Тип резултатаМп-кат.
2017A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. (✓)Perić, Stojan ; Nikodinović-Glumac, Jelena; Töpf, Ana; Savić-Pavićević, Dušanka  ; Phillips, Lauren; Johnson, Katherine; Cassop-Thompson, Marcus; Xu, Liwen; Bertoli, Marta; Lek, Monkol;
MacArthur, Daniel; Brkušanin, Miloš  ; Milenković, Sanja  ; Milić-Rašić, Vedrana  ; Banko, Bojan  ; Maksimović, Ružica  ; Lochmüller, Hanns; Stojanović, Vidosava  ; Straub, Volker;
Научни чланак
21M21 - Рад у врхунском међ. часопису
2018Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite populationJohnson, Katherine; De, Ridder Willem; Töpf, Ana; Bertoli, Marta; Phillips, Lauren; De, Jonghe Peter; Baets, Jonathan; Deconinck, Tine; Stojanović, Vidosava  ; Perić, Stojan ;
Durmus, Hacer; Jamal-Omidi, Shirin; Nafissi, Shahriar; Mongini, Tiziana; Łusakowska, Anna; Busby, Mark; Miller, James; Norwood, Fiona; Hudson, Judith; Barresi, Rita; Lek, Monkol; MacArthur, Daniel G; Straub, Volker;
Научни чланак
21aM21a - Рад у међ. часопису изузетних вредности
2013Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and EuropeBladen, Catherine L.; Thompson, Rachel; Jackson, Jacqueline M.; Garland, Connie; Wegel, Claire; Ambrosini, Anna; Pisano, Paolo; Walter, Maggie C.; Schreiber, Olivia; Lusakowska, Anna;
Jedrzejowska, Maria; Kostera-Pruszczyk, Anna; van, der Pol Ludo; Wadman, Renske I.; Gredal, Ole; Karaduman, Ayse; Topaloglu, Haluk; Yilmaz, Oznur; Matyushenko, Vitaliy; Rasic, Vedrana Milic; Kosac, Ana; Karcagi, Veronika; Garami, Marta; Herczegfalvi, Agnes; Monges, Soledad; Moresco, Angelica; Chertkoff, Lilien; Chamova, Teodora; Guergueltcheva, Velina; Butoianu, Niculina; Craiu, Dana; Korngut, Lawrence; Campbell, Craig; Haberlova, Jana; Strenkova, Jana; Alejandro, Moises; Jimenez, Alatorre; Ortiz, Genaro Gabriel; Enriquez, Gracia Viviana Gonzalez; Rodrigues, Miriam; Roxburgh, Richard; Dawkins, Hugh; Youngs, Leanne; Lahdetie, Jaana; Angelkova, Natalija; Saugier-Veber, Pascal; Cuisset, Jean-Marie; Bloetzer, Clemens; Jeannet, Pierre-Yves; Klein, Andrea; Nascimento, Andres; Tizzano, Eduardo; Salgado, David; Mercuri, Eugenio; Sejersen, Thomas; Kirschner, Jan; Rafferty, Karen; Straub, Volker; Bushby, Kate; Verschuuren, Jan; Beroud, Christophe; Lochmüller, Hanns;
Научни чланак
21M21 - Рад у врхунском међ. часопису
2015The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy MutationsBladen, 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, A. Ayşe; 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;
Научни чланак
21M21 - Рад у врхунском међ. часопису
2013The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and AcademiaBladen, 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;
Научни чланак
21M21 - Рад у врхунском међ. часопису