检索结果 - Vondráček, Petr
- Showing 1 - 5 results of 5
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1
CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel 由 Skálová, Daniela, Zídková, Jana, Voháňka, Stanislav, Mazanec, Radim, Mušová, Zuzana, Vondráček, Petr, Mrázová, Lenka, Kraus, Josef, Réblová, Kamila, Fajkusová, Lenka
出版 2013Text -
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Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic 由 Stehlíková, Kristýna, Skálová, Daniela, Zídková, Jana, Mrázová, Lenka, Vondráček, Petr, Mazanec, Radim, Voháňka, Stanislav, Haberlová, Jana, Hermanová, Markéta, Zámečník, Josef, Souček, Ondřej, Ošlejšková, Hana, Dvořáčková, Nina, Solařová, Pavla, Fajkusová, Lenka
出版 2014Text -
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Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I 由 Rotthier, Annelies, Auer-Grumbach, Michaela, Janssens, Katrien, Baets, Jonathan, Penno, Anke, Almeida-Souza, Leonardo, Van Hoof, Kim, Jacobs, An, De Vriendt, Els, Schlotter-Weigel, Beate, Löscher, Wolfgang, Vondráček, Petr, Seeman, Pavel, De Jonghe, Peter, Van Dijck, Patrick, Jordanova, Albena, Hornemann, Thorsten, Timmerman, Vincent
出版 2010Text -
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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies 由 Cirak, Sebahattin, Foley, Aileen Reghan, Herrmann, Ralf, Willer, Tobias, Yau, Shu, Stevens, Elizabeth, Torelli, Silvia, Brodd, Lina, Kamynina, Alisa, Vondracek, Petr, Roper, Helen, Longman, Cheryl, Korinthenberg, Rudolf, Marrosu, Gianni, Nürnberg, Peter, Michele, Daniel E., Plagnol, Vincent, Hurles, Matt, Moore, Steven A., Sewry, Caroline A., Campbell, Kevin P., Voit, Thomas, Muntoni, Francesco
出版 2013Text -
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European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences 由 Vry, Julia, Gramsch, Kathrin, Rodger, Sunil, Thompson, Rachel, Steffensen, Birgit F., Rahbek, Jes, Doerken, Sam, Tassoni, Adrian, Beytía, María de los Angeles, Guergueltcheva, Velina, Chamova, Teodora, Tournev, Ivailo, Kostera-Pruszczyk, Anna, Kaminska, Anna, Lusakowska, Anna, Mrazova, Lenka, Pavlovska, Lenka, Strenkova, Jana, Vondráček, Petr, Garami, Marta, Karcagi, Veronika, Herczegfalvi, Ágnes, Bushby, Katherine, Lochmüller, Hanns, Kirschner, Janbernd
出版 2016Text