HuGE Literature Finder
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Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect. Orphanet journal of rare diseases 2020 1 15 (1): 14. Mojbafan Marzieh, Bahmani Reza, Bagheri Samira Dabbagh, Sharifi Zohreh, Zeinali Siro |
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. Brain : a journal of neurology 2020 9 143 (9): 2696-2708. Alonso-Pérez Jorge, González-Quereda Lidia, Bello Luca, Guglieri Michela, Straub Volker, Gallano Pia, Semplicini Claudio, Pegoraro Elena, Zangaro Vittoria, Nascimento Andrés, Ortez Carlos, Comi Giacomo Pietro, Dam Leroy Ten, De Visser Marianne, van der Kooi A J, Garrido Cristina, Santos Manuela, Schara Ulrike, Gangfuß Andrea, Løkken Nicoline, Storgaard Jesper Helbo, Vissing John, Schoser Benedikt, Dekomien Gabriele, Udd Bjarne, Palmio Johanna, D'Amico Adele, Politano Luisa, Nigro Vincenzo, Bruno Claudio, Panicucci Chiara, Sarkozy Anna, Abdel-Mannan Omar, Alonso-Jimenez Alicia, Claeys Kristl G, Gomez-Andrés David, Munell Francina, Costa-Comellas Laura, Haberlová Jana, Rohlenová Marie, Elke De Vos, De Bleecker Jan L, Dominguez-González Cristina, Tasca Giorgio, Weiss Claudia, Deconinck Nicolas, Fernández-Torrón Roberto, López de Munain Adolfo, Camacho-Salas Ana, Melegh Béla, Hadzsiev Kinga, Leonardis Lea, Koritnik Blaz, Garibaldi Matteo, de Leon-Hernández Juan Carlos, Malfatti Edoardo, Fraga-Bau Arturo, Richard Isabelle, Illa Isabel, Díaz-Manera Jor |
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. BMC neurology 2014 14 154. Stehlíková Kristýna, Skálová Daniela, Zídková Jana, Mrázová Lenka, Vondrá?ek Petr, Mazanec Radim, Vohá?ka Stanislav, Haberlová Jana, Hermanová Markéta, Záme?ník Josef, Sou?ek Ond?ej, Ošlejšková Hana, Dvo?á?ková Nina, Sola?ová Pavla, Fajkusová Len |
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